Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia
Open accessAbstract
CONTEXT: Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens. OBJECTIVE: The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients. DESIGN AND SETTING: We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health. MAIN OUTCOME MEASURE(S): Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART). RESULTS: The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height SD score was -1.0 ± 1.1 for classic vs. -0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men). CONCLUSIONS: Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way.
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TL;DR
In a cross-sectional NIH Natural History Study of 244 patients with 21-hydroxylase deficiency CAH (183 classic, 61 nonclassic), poor hormonal control and adverse long-term outcomes were common across pediatric and adult patients. The authors conclude that new treatments are needed and recommend routine childhood monitoring of blood pressure and plasma renin activity, osteoporosis prophylaxis, and TART screening.
Key findings
- Mean adult height SDS was −1.0 ± 1.1 for classic vs −0.4 ± 0.9 for nonclassic patients (P = 0.015); corrected height SDS was −1.1 ± 0.9 vs −0.3 ± 0.7 (P < 0.001). Classic patients lost approximately 7.5 cm of genetic height potential, whereas nonclassic patients lost approximately 2 cm.
- Obesity was present in approximately one third of patients across phenotypes. Elevated blood pressure was more common in classic than nonclassic patients (P ≤ 0.01), and pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% nonclassic); 18% of adults had metabolic syndrome.
- The majority (61%) had low vitamin D, and 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% nonclassic women). Testicular adrenal rest was found in classic males (33% boys; 44% men) and in none of the nonclassic males.
- The majority had elevated or suppressed androgens with varied treatment regimens; approximately 30% of classic patients and half of nonclassic women were in acceptable hormonal control based on early morning 17-OHP between 100 and 1200 ng/dl, and PRA was elevated or suppressed in 44% of classic patients.
Methods
- Cross-sectional baseline evaluation of 244 patients with 21-hydroxylase deficiency (170 children ages 0.6–17 yr; 74 adults ages 18–68 yr) enrolled in a Natural History Study at the NIH Clinical Center (NCT00250159). Patients were recruited via ClinicalTrials.gov, a national CAH support group, self-referral, and approximately 5% physician referrals.
- Diagnosis was confirmed with hormonal testing and genotyping; phenotypic classification used clinical and hormonal criteria plus medical record review. Measurements included anthropometrics, blood pressure, Ferriman-Gallwey score, fasting morning labs, DXA in 67 children and 42 adults, hand x-ray for bone age, and testicular sonography in males starting at 4 yr of age.
- Data were described by frequency distributions or descriptive statistics; comparisons used t tests, ANOVA, nonparametric tests, χ² or Fisher’s exact tests, and correlation analyses, with separate pediatric and adult analyses. P ≤ 0.05 was considered statistically significant; analyses used SAS version 9.2.
Limitations
- Stated by the authors: patients came from multiple centers, leading to heterogeneity; measurements came from a single baseline evaluation; extensive medical records were unavailable for most patients, so long-term glucocorticoid exposure could not be estimated; and self-referral may have biased the cohort toward more motivated patients.
- Evident from the text: the cross-sectional design cannot establish causality or capture lifetime treatment exposure and longitudinal outcomes, and some subgroup analyses relied on small numbers (e.g., adult glucocorticoid treatment categories and pregnancy outcomes).
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- Findingown data§ Results
In classic children, hypertensive blood pressure was associated with suppressed PRA.
“In addition, in classic children, hypertensive BP was associated with younger age (P < 0.001) and suppressed PRA (P = 0.001), but not with fludrocortisone dose, obesity, or BMI.”
Quote in the paperNot a substantial claim - Findingown data§ Abstract
Pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001).
“Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001).”
Quote in the paperNot a substantial claim - Findingown data§ Abstract
The cohort included 244 patients with 21-hydroxylase deficiency.
“Here, we report clinical data from the baseline evaluation of 244 patients with 21-hydroxylase deficiency.”
Quote in the paperSubstantial claim - Findingown data§ Results
Significant differences were observed between classic and NC CAH patients for free metanephrine.
“Significant differences were observed between classic and NC CAH patients for both epinephrine (pediatric, 15.0 ± 14.2 vs. 26.7 ± 17.2 pg/ml, P = 0.001; adult, 10.0 ± 6.5 vs. 15.3 ± 9.8 pg/ml, P = 0.021; normal range, 4–83 pg/ml) and free metanephrine (pediatric, 18.6 ± 12.3 vs. 36.2 ± 11.1 pg/ml, P < 0.001; adult, 16.2 ± 10.7 vs. 24.7 ± 11.1 pg/ml, P = 0.002; normal range, 12–61 pg/ml).”
Quote in the paperNot a substantial claim - Findingown data§ Results
In adults, elevated blood pressure was more likely in classic than nonclassic patients.
“In adults, elevated BP was more likely in classic than NC patients (P = 0.009).”
Quote in the paperNot a substantial claim
- Findingown data§ Results
Metabolic syndrome in adults was associated with older age.
“Metabolic syndrome was observed in 18% of adults and associated with older age (P = 0.015); no association was found with androgens, glucocorticoid type, or dose.”
Quote in the paperNot a substantial claim - Findingown data§ Results
Testosterone was elevated for age and sex in approximately 15 to 20% of pediatric and adult patients.
“Testosterone was elevated for age and sex in approximately 15 to 20% of pediatric and adult patients (Fig. 2D).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Metabolic syndrome was observed in 18% of adults.
“Metabolic syndrome was observed in 18% of adults and associated with older age (P = 0.015); no association was found with androgens, glucocorticoid type, or dose.”
Quote in the paperNot a substantial claim - Findingown data§ Results
The majority of children were receiving hydrocortisone.
“As expected, the majority of children were receiving hydrocortisone (Fig. 2A), whereas adults were treated with a variety of medications.”
Quote in the paperNot a substantial claim - Findingown data§ Results
No differences in obesity were observed between the classic and NC groups in children.
“Approximately 35% of children were obese, with no differences observed between the classic and NC groups (Fig. 4A).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Lower adult height SDS correlation with older age was especially in classic patients (r2 = −0.43; P = 0.001).
“Lower adult height SDS was correlated with older age (r2 = −0.30; P = 0.006), especially in classic patients (r2 = −0.43; P = 0.001).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Lower corrected adult height was not associated with glucocorticoid type/dose, age, or age at diagnosis.
“Lower corrected adult height (Fig. 3C) was associated with male sex (P = 0.003) and the classic phenotype (P < 0.001), but not with glucocorticoid type/dose, age, or age at diagnosis.”
Quote in the paperNot a substantial claim - Findingown data§ Results
About half of the patients had either elevated or suppressed androstenedione.
“About half of the patients had either elevated or suppressed androstenedione (Fig. 2C).”
Quote in the paperNot a substantial claim - Findingown data§ Results
In adults, elevated blood pressure was associated with male sex.
“In adults, factors associated with elevated BP were elevated 17-OHP (P = 0.009), and male sex (P = 0.017).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Children with predicted adult short stature were more likely to have lower midparental height Z scores (P = 0.001).
“Children with predicted adult short stature were more likely to have lower midparental height Z scores (P = 0.001), have a larger discrepancy between bone age and chronological age (P < 0.001), and be receiving a higher glucocorticoid dose (P = 0.013).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Insulin sensitivity, assessed by HOMA-IR, was more likely to be impaired in classic than in nonclassic children.
“Insulin sensitivity, assessed by HOMA-IR, was more likely to be impaired in classic than in NC children (P = 0.004) (Fig. 4C).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Mean adult height SDS was −1.0 ± 1.1 for classic vs. −0.4 ± 0.9 for NC patients (P = 0.015).
“Mean adult height SDS was −1.0 ± 1.1 for classic vs. −0.4 ± 0.9 for NC patients (P = 0.015) (Fig. 3B); mean corrected height SDS was −1.1 ± 0.9 for classic vs. −0.3 ± 0.7 for NC patients (P < 0.001) (Fig. 3C).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Lower adult height SDS was correlated with older age (r2 = −0.30; P = 0.006).
“Lower adult height SDS was correlated with older age (r2 = −0.30; P = 0.006), especially in classic patients (r2 = −0.43; P = 0.001).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Children with predicted adult short stature were more likely to have a larger discrepancy between bone age and chronological age (P < 0.001).
“Children with predicted adult short stature were more likely to have lower midparental height Z scores (P = 0.001), have a larger discrepancy between bone age and chronological age (P < 0.001), and be receiving a higher glucocorticoid dose (P = 0.013).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Children with predicted adult short stature were more likely to be receiving a higher glucocorticoid dose (P = 0.013).
“Children with predicted adult short stature were more likely to have lower midparental height Z scores (P = 0.001), have a larger discrepancy between bone age and chronological age (P < 0.001), and be receiving a higher glucocorticoid dose (P = 0.013).”
Quote in the paperNot a substantial claim - Findingown data§ Results
28% of adult NC females were on oral contraceptive pill.
“Twenty-four percent of adult NC females were not receiving glucocorticoid therapy, 28% were on oral contraceptive pill, and 14% were on spironolactone.”
Quote in the paperNot a substantial claim - Findingown data§ Results
No differences were observed between the SW and SV groups for height.
“No differences were observed between the SW and SV groups.”
Quote in the paperNot a substantial claim - Findingown data§ Results
In classic children, hypertensive blood pressure was associated with younger age.
“In addition, in classic children, hypertensive BP was associated with younger age (P < 0.001) and suppressed PRA (P = 0.001), but not with fludrocortisone dose, obesity, or BMI.”
Quote in the paperNot a substantial claim - Findingown data§ Results
Classic children were more likely to have elevated blood pressure than nonclassic children.
“Classic children were more likely to have elevated BP than NC children (P = 0.017) (Fig. 4B).”
Quote in the paperNot a substantial claim - Findingown data§ Results
In adults, elevated blood pressure was associated with elevated 17-OHP.
“In adults, factors associated with elevated BP were elevated 17-OHP (P = 0.009), and male sex (P = 0.017).”
Quote in the paperNot a substantial claim - Findingown data§ Abstract
The cohort included 183 classic and 61 nonclassic patients.
“We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health.”
Quote in the paperNot a substantial claim - Findingown data§ Results
In adults, obesity was not associated with glucocorticoid type.
“In adults, obesity was associated with higher glucocorticoid dose (P = 0.004), but not type.”
Quote in the paperNot a substantial claim - Findingown data§ Results
Twenty-four percent of adult NC females were not receiving glucocorticoid therapy.
“Twenty-four percent of adult NC females were not receiving glucocorticoid therapy, 28% were on oral contraceptive pill, and 14% were on spironolactone.”
Quote in the paperNot a substantial claim - Findingown data§ Abstract
Elevated BP was more common in classic than NC patients (P ≤ 0.01).
“Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001).”
Quote in the paperSubstantial claim - Findingown data§ Abstract
TART was found in classic males (33% boys; 44% men).
“TART was found in classic males (33% boys; 44% men).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Obese compared with nonobese children were more likely to be on a long-acting glucocorticoid (P <0.05).
“Obese compared with nonobese children were more likely to be on a long-acting glucocorticoid (P <0.05), but did not differ in glucocorticoid dose, family history of obesity, sex, or age.”
Quote in the paperNot a substantial claim - Findingown data§ Results
Bone age advancement was also associated with elevated testosterone levels (P = 0.02).
“Bone age advancement was also associated with elevated testosterone levels (suppressed or normal vs. elevated, P = 0.02).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Approximately one third of adults were obese.
“Approximately one third of adults were obese, and one third had a normal BMI (Fig. 4A).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Obese compared with nonobese adults had higher leptin (P < 0.001).
“Obese compared with nonobese adults had higher leptin (P < 0.001); however, no difference was found in CAH type, androgens, age, sex, or family history of obesity.”
Quote in the paperNot a substantial claim - Findingown data§ Results
The majority of children had normal bone mineral density.
“The majority of children had normal BMD (Fig. 4D).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Mean corrected height SDS was −1.1 ± 0.9 for classic vs. −0.3 ± 0.7 for NC patients (P < 0.001).
“Mean adult height SDS was −1.0 ± 1.1 for classic vs. −0.4 ± 0.9 for NC patients (P = 0.015) (Fig. 3B); mean corrected height SDS was −1.1 ± 0.9 for classic vs. −0.3 ± 0.7 for NC patients (P < 0.001) (Fig. 3C).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Approximately 35% of children were obese.
“Approximately 35% of children were obese, with no differences observed between the classic and NC groups (Fig. 4A).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Glucocorticoid was being given in a reverse circadian manner in 28% of patients.
“Glucocorticoid was being given in a reverse circadian manner in 28% of patients, and 2% were receiving a combination of short-acting and long-acting glucocorticoids.”
Quote in the paperNot a substantial claim - Findingown data§ Results
Among heterosexual sexually active women, the number with one or more pregnancies was lowest for the salt-wasting group.
“Of those women who were heterosexual and sexually active (eight SW, 10 SV, 25 NC), the number of women with one or more pregnancies was lowest for the SW group [SW, one (12.5%); SV, five (50%); NC: 12 (48%)], with 14 intentional pregnancies (SW, one; SV, two; NC, 11).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Lower corrected adult height was associated with the classic phenotype (P < 0.001).
“Lower corrected adult height (Fig. 3C) was associated with male sex (P = 0.003) and the classic phenotype (P < 0.001), but not with glucocorticoid type/dose, age, or age at diagnosis.”
Quote in the paperNot a substantial claim - Findingown data§ Results
In adults, obesity was associated with higher glucocorticoid dose (P = 0.004).
“In adults, obesity was associated with higher glucocorticoid dose (P = 0.004), but not type.”
Quote in the paperNot a substantial claim - Findingown data§ Abstract
The majority (61%) had low vitamin D.
“The majority (61%) had low vitamin D; 37% of adults had low bone mineral density.”
Quote in the paperNot a substantial claim - Findingown data§ Results
In children, bone age advancement was associated with higher androstenedione (r2 = 0.456; P < 0.001).
“In children, bone age advancement was associated with higher androstenedione (r2 = 0.456; P < 0.001).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Lower corrected adult height was associated with male sex (P = 0.003).
“Lower corrected adult height (Fig. 3C) was associated with male sex (P = 0.003) and the classic phenotype (P < 0.001), but not with glucocorticoid type/dose, age, or age at diagnosis.”
Quote in the paperNot a substantial claim - Findingown data§ Results
One third of adults had a normal BMI.
“Approximately one third of adults were obese, and one third had a normal BMI (Fig. 4A).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Low bone mineral density was a common finding in adult patients with both classic and nonclassic CAH.
“Low BMD was a common finding in adult patients with both classic and NC CAH (Fig. 4D).”
Quote in the paperNot a substantial claim - Findingown data§ Results
Significant differences were observed between classic and NC CAH patients for epinephrine.
“Significant differences were observed between classic and NC CAH patients for both epinephrine (pediatric, 15.0 ± 14.2 vs. 26.7 ± 17.2 pg/ml, P = 0.001; adult, 10.0 ± 6.5 vs. 15.3 ± 9.8 pg/ml, P = 0.021; normal range, 4–83 pg/ml) and free metanephrine (pediatric, 18.6 ± 12.3 vs. 36.2 ± 11.1 pg/ml, P < 0.001; adult, 16.2 ± 10.7 vs. 24.7 ± 11.1 pg/ml, P = 0.002; normal range, 12–61 pg/ml).”
Quote in the paperNot a substantial claim - Findingown data§ Results
None of the nonclassic males had evidence of testicular adrenal rest tumors.
“None of the NC males had evidence of TART.”
Quote in the paperNot a substantial claim - Findingown data§ Discussion
In this cross-sectional study of CAH patients, adult height was lower than the population norm.
“In this cross-sectional study of CAH patients, adult height was lower than the population norm.”
Quote in the paperSubstantial claim - Findingown data§ Results
Hirsutism was present in 46% of females.
“Hirsutism was present in 46% of females and, although not statistically significant, was more common among NC women (32% classic vs. 59% NC; P = 0.06).”
Quote in the paperNot a substantial claim - Study design and conductcitation§ Abstract
Diagnosis was confirmed with hormonal testing and genotyping.
“The diagnosis was confirmed with hormonal testing and genotyping (5).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [5] Finkielstain, 2011, Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency., J Clin Endocrinol Metab source
Not checked in the free run.
- Interpretationown data§ Discussion
Metabolic syndrome was commonly observed in adults with CAH.
“Obesity and hypertension were common in children with both classic and NC CAH, whereas metabolic syndrome was commonly observed in adults.”
Quote in the paperNot a substantial claim - Study design and conductreasoning§ Discussion
The study had limitations because patients came from multiple centers, leading to heterogeneity in the study population.
“Our study had limitations because patients came from multiple centers leading to heterogeneity in our study population.”
Quote in the paperNot a substantial claim - Interpretationown data§ Discussion
Nonclassic males are not at risk for adrenal rest.
“Screening testicular ultrasound should be performed in classic males beginning in childhood; NC males are not at risk for adrenal rest.”
Quote in the paperSubstantial claim - Interpretationown data§ Discussion
Long-term adverse health outcomes were frequently observed in both pediatric and adult patients with CAH.
“Long-term adverse health outcomes were frequently observed in both pediatric and adult patients.”
Quote in the paperSubstantial claim - Interpretationown data§ Discussion
Hirsutism was common in women of all CAH subtypes.
“Hirsutism was common in women of all subtypes.”
Quote in the paperNot a substantial claim - Interpretationown data§ Discussion
Testicular adrenal rest tumors were common among classic males with CAH, even prepubertal boys.
“Hyperandrogenism and decreased sexual activity were common findings in SW women, and TART was common among classic males, even prepubertal boys.”
Quote in the paperNot a substantial claim - Interpretationown data§ Discussion
Low bone mineral density was observed among adults with CAH.
“Low BMD was observed among adults, whereas the majority of children had normal BMD.”
Quote in the paperSubstantial claim
- Classified as probably not a substantial claim. 13
- May combine two claims. 24
- The quote only partly states this claim. 2
Probably not a substantial claim: may not pass S3 (load-bearing).
Findingown data§ ResultsThe cohort included 170 children and 74 adults.
“The cohort included 170 children (ages 0.6 to 17 yr) and 74 adults, defined as age of at least 18 yr (18 to 68 yr) (Table 1).”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ AbstractHirsutism was common (32% classic; 59% NC women).
“Hirsutism was common (32% classic; 59% NC women).”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsObese compared with nonobese children did not differ in glucocorticoid dose, family history of obesity, sex, or age.
“Obese compared with nonobese children were more likely to be on a long-acting glucocorticoid (P <0.05), but did not differ in glucocorticoid dose, family history of obesity, sex, or age.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ AbstractInsulin resistance was common in classic children (27%) and adults (38% classic, 20% NC).
“Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome.”
Quote in the paperNot a substantial claimThe quote only partly states this claim.
Findingown data§ Abstract37% of adults had low bone mineral density.
“The majority (61%) had low vitamin D; 37% of adults had low bone mineral density.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsObese children had higher insulin, HOMA-IR, leptin, 17-OHP, and androstenedione than normal or overweight patients.
“However, obese children had higher insulin (P < 0.001), HOMA-IR (P = 0.009), leptin (P < 0.001), 17-OHP (P = 0.04), and androstenedione (P = 0.002) than normal or overweight patients.”
Quote in the paperNot a substantial claimThe quote only partly states this claim.
Findingown data§ Abstract18% of adults had metabolic syndrome.
“Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsObese compared with nonobese adults had no difference in CAH type, androgens, age, sex, or family history of obesity.
“Obese compared with nonobese adults had higher leptin (P < 0.001); however, no difference was found in CAH type, androgens, age, sex, or family history of obesity.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsOvertreatment (suppressed adrenal hormones) and undertreatment (hyperandrogenism) were common in both pediatric and adult patients.
“Overtreatment (suppressed adrenal hormones) and undertreatment (hyperandrogenism) were common in both pediatric and adult patients.”
Quote in the paperSubstantial claimMay combine two claims.
Findingown data§ ResultsIn adults, vitamin D deficiency was found in 28% of classic and 11% of nonclassic patients.
“In adults, vitamin D deficiency was found in 28% of classic and 11% of NC patients; insufficiency was found in 40% of classic and 39% of NC patients.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsApproximately 30% of classic patients (pediatric and adult) and half of the NC women were in acceptable hormonal control based on early morning 17-OHP between 100 and 1200 ng/dl.
“Approximately 30% of classic patients (pediatric and adult) and half of the NC women were in acceptable hormonal control based on early morning 17-OHP between 100 and 1200 ng/dl (Fig. 2B).”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsIn children, vitamin D deficiency was observed in 19% of classic patients and in none of the nonclassic patients.
“In children, vitamin D deficiency was observed in 19% of classic patients and in none of the NC patients; insufficiency was found in 42% of classic and 67% of NC patients.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsLower corrected predicted height was not associated with sex, age, phenotype, bone age advancement, glucocorticoid type/dose, or age at diagnosis.
“Lower corrected predicted height was not associated with sex, age, phenotype, bone age advancement, glucocorticoid type/dose, or age at diagnosis.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsIn children, 20% of classic and 7% of NC patients had a predicted adult height SDS of −2.0 or less.
“In children, 20% of classic and 7% of NC patients had a predicted adult height SDS of −2.0 or less (Fig. 3A).”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown data§ Results2% of patients were receiving a combination of short-acting and long-acting glucocorticoids.
“Glucocorticoid was being given in a reverse circadian manner in 28% of patients, and 2% were receiving a combination of short-acting and long-acting glucocorticoids.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsMean glucocorticoid equivalence dose in classic patients was 15.0 ± 5.9 mg/m2·d in children and 17.9 ± 7.6 mg/m2·d in adults.
“The mean glucocorticoid equivalence dose in classic patients was 15.0 ± 5.9 mg/m2 · d in children and 17.9 ± 7.6 mg/m2 · d in adults.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsIn adult females, the majority of nonclassic and simple virilizing women reported sexual activity, whereas only 57% of salt-wasting women reported a history of ever having had a sexual partner.
“In adult females, the majority of NC and SV women reported sexual activity (96 and 91%, respectively), whereas only 57% of SW women reported a history of ever having had a sexual partner.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsPRA was either elevated or suppressed in 44% of classic patients, especially in SW patients.
“In addition, PRA was either elevated or suppressed in 44% of classic patients, especially in SW patients.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown data§ Results14% of adult NC females were on spironolactone.
“Twenty-four percent of adult NC females were not receiving glucocorticoid therapy, 28% were on oral contraceptive pill, and 14% were on spironolactone.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingcitation§ AbstractGood genotype-phenotype correlation was observed and has been previously reported.
“Good genotype-phenotype correlation was observed and has been previously reported (5).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [5] Finkielstain, 2011, Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency., J Clin Endocrinol Metab source
Not checked in the free run.
May combine two claims.
Findingcitation§ ResultsSW patients had the lowest and NC patients had the highest epinephrine and metanephrine values.
“As expected (20), SW patients had the lowest and NC patients had the highest values [patients with values below normal range (SW vs. SV vs. NC), pediatric—epinephrine, 12.7 vs. 6.1 vs. 3.9%; metanephrine, 47.6 vs. 17.6 vs. 4.2%; adults—epinephrine, 21.7 vs. 7.1 vs. 0%; metanephrine, 56.5 vs. 14.3 vs. 6.7%].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [20] Verma, 2010, Adrenomedullary function in patients with nonclassic congenital adrenal hyperplasia., Horm Metab Res source
Not checked in the free run.
May combine two claims.
Findingown data§ DiscussionOn average, classic patients lost approximately 7.5 cm of genetic height potential, whereas nonclassic patients lost approximately 2 cm.
“On average, classic patients lost approximately 7.5 cm of genetic height potential, whereas NC patients lost approximately 2 cm.”
Quote in the paperSubstantial claimMay combine two claims.
Findingown data§ ResultsHirsutism was more common among nonclassic women, although the difference was not statistically significant.
“Hirsutism was present in 46% of females and, although not statistically significant, was more common among NC women (32% classic vs. 59% NC; P = 0.06).”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown data§ ResultsThe prevalence of testicular adrenal rest tumors was 33% in boys and 44% in men with classic CAH.
“The prevalence of TART was 33% in boys and 44% in men with classic CAH.”
Quote in the paperNot a substantial claimMay combine two claims.
Interpretationown data§ AbstractPoor hormonal control and adverse outcomes are common in CAH.
“Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Premisecitation§ AbstractThe incidence of classic CAH ranges from 1 in 10,000 to 20,000 live births worldwide.
“The incidence of classic CAH ranges from 1 in 10,000 to 20,000 live births worldwide and is subclassified into salt-wasting (SW) and simple virilizing (SV), reflecting the degree of aldosterone deficiency (2).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [2] Speiser, 2010, Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline., J Clin Endocrinol Metab source
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductown data§ AbstractOf 149 pediatric patients who had open epiphyses, 25 were excluded from stature analyses due to previous administration of GH or an aromatase inhibitor.
“Of the 149 pediatric patients who had open epiphyses, 25 were excluded from the stature analyses due to previous administration of GH or an aromatase inhibitor.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Premisecitation§ AbstractBy consensus, hydrocortisone is the treatment of choice for children with CAH.
“By consensus, hydrocortisone is the treatment of choice for children (2), but several glucocorticoid preparations are used for adults (4).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [2] Speiser, 2010, Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline., J Clin Endocrinol Metab source
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
Premisecitation§ AbstractThe nonclassic form of CAH is much more common, with an estimated prevalence of 1 in 1000.
“The NC form is much more common, with an estimated prevalence of 1 in 1000 (3).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [3] Speiser, 1985, High frequency of nonclassical steroid 21-hydroxylase deficiency., Am J Hum Genet
Not checked in the free run.
Classified as probably not a substantial claim.
Study design and conductnone given§ AbstractPhenotypic classification was determined based on clinical and hormonal criteria and review of medical records.
“Phenotypic classification was determined based on clinical and hormonal criteria and review of medical records.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductown data§ AbstractOf 95 patients who had reached adult height, eight were excluded due to previous administration of GH or an aromatase inhibitor.
“Of the 95 patients who had reached adult height, eight were excluded due to previous administration of GH or an aromatase inhibitor.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Premisecitation§ AbstractSeveral glucocorticoid preparations are used for adults with CAH.
“By consensus, hydrocortisone is the treatment of choice for children (2), but several glucocorticoid preparations are used for adults (4).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [4] Arlt, 2010, Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients., J Clin Endocrinol Metab source
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing).
Premisecitation§ AbstractClassic CAH is subclassified into salt-wasting (SW) and simple virilizing (SV), reflecting the degree of aldosterone deficiency.
“The incidence of classic CAH ranges from 1 in 10,000 to 20,000 live births worldwide and is subclassified into salt-wasting (SW) and simple virilizing (SV), reflecting the degree of aldosterone deficiency (2).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [2] Speiser, 2010, Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline., J Clin Endocrinol Metab source
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing).
Premisecitation§ AbstractCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis.
“Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis (1).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [1] Merke, 2005, Congenital adrenal hyperplasia., Lancet source
Not checked in the free run.
May combine two claims.
Study design and conductown data§ DiscussionMeasurements were from one evaluation, and extensive medical records were not available for most patients, so long-term glucocorticoid exposure could not be estimated.
“We report here patients' baseline evaluation; measurements are from one evaluation. Extensive medical records were not available for most patients; thus, we were unable to estimate long-term glucocorticoid exposure.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductnone given§ DiscussionAn additional limitation of the study is possible self-referral bias of a more motivated cohort than the general population of CAH patients.
“An additional limitation of this study is the possible self-referral bias of a more motivated cohort than the general population of CAH patients.”
Quote in the paperNot a substantial claimMay combine two claims.
Interpretationown data§ DiscussionObesity and hypertension were common in children with both classic and nonclassic CAH.
“Obesity and hypertension were common in children with both classic and NC CAH, whereas metabolic syndrome was commonly observed in adults.”
Quote in the paperSubstantial claimMay combine two claims.
Interpretationown data§ DiscussionHyperandrogenism and decreased sexual activity were common findings in salt-wasting women with CAH.
“Hyperandrogenism and decreased sexual activity were common findings in SW women, and TART was common among classic males, even prepubertal boys.”
Quote in the paperSubstantial claim
The paper relies on this without support.
Patients with CAH often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens.
“Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens.”
The paper relies on this without support.
Optimal therapeutic regimens are difficult to achieve, and often short- and long-term complications related to glucocorticoid and/or androgen excess arise, reflecting over- or undertreatment.
“Optimal therapeutic regimens are difficult to achieve, and often short- and long-term complications related to glucocorticoid and/or androgen excess arise, reflecting over- or undertreatment.”
The paper relies on this without support.
There is currently no standard regimen for treating adults with CAH.
“However, there is currently no standard regimen for treating CAH adults, which was reflected in the observed varied glucocorticoid regimens.”
The paper relies on this without support.
Patients with CAH often fail to reach their midparental height as a result of hyperandrogenism, hypercortisolism, or a combination of these two undesirable states.
“Patients with CAH often fail to reach their midparental height as a result of hyperandrogenism, hypercortisolism, or a combination of these two undesirable states.”
The paper relies on this without support.
There are minimal data on hypertension in adult patients with CAH.
“There are minimal data on hypertension in adult patients with CAH; however, women with CAH have been found to have increased BP compared with controls (4, 29).”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Supra-physiologic glucocorticoid use contributes to higher rates of obesity, metabolic syndrome, and bone mass decline in adults with 21OHD.
“Supra-physiologic glucocorticoid use contributes to higher rates of obesity, metabolic syndrome, and bone mass decline in adults with 21OHD (4, 5).”
From 24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency (2021) · cites this paper as [5]
The Results report that obesity in adults with CAH was associated with higher glucocorticoid dose, and the Discussion says glucocorticoid therapy may contribute to decreased bone mineral density. But the Results found no association between metabolic syndrome and glucocorticoid type or dose. The claim therefore overstates the evidence by attributing all three outcomes to supraphysiologic glucocorticoid use. (LLM, conf=0.90)
Experimental — accuracy not yet measuredCYP21A2 gene duplications are relatively common in some populations.
“CYP21A2 gene duplications are relatively common in some populations (214,215).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [215]
The Patients and Methods passage (page unavailable) says the cohort’s diagnosis was confirmed by genotyping, while the Discussion describes clinical outcomes. Neither reports CYP21A2 gene-duplication frequencies in any population. Searches for CYP21A2 duplications, copy number, and duplication found no passage addressing the claim. (LLM, conf=0.73)
Experimental — accuracy not yet measuredThe prevalence of TART is between 21-33% of boys with classic 21OH.
“and 21-33% of boys 98,116 with classic 21OH”
From Congenital adrenal hyperplasia (2017) · cites this paper as [98]
The prevalence of TART is between 44-94% of men with classic 21OH.
“The prevalence of TART is between 44-94% of men 98,107,114,115”
From Congenital adrenal hyperplasia (2017) · cites this paper as [98]
Target levels of 17-OHP are above the normal range (for example, <1,200 ng/dl or <36 nmol/l).
“Hence, target levels of 17-OHP are above the normal range (for example, <1,200 ng/dl or <36 nmol/l)22,23.”
From Management challenges and therapeutic advances in congenital adrenal hyperplasia (2022) · cites this paper as [23]
Approximately one-third of patients in two large cohort studies of classic CAH had normal serum androstenedione levels, reflecting good hormonal control.
“Unsurprisingly, inadequate hormonal control is common, and approximately one-third of patients in two large cohort studies of patients with classic CAH had normal serum levels of androstenedione, reflecting good hormonal control22,23.”
From Management challenges and therapeutic advances in congenital adrenal hyperplasia (2022) · cites this paper as [23]
There are no randomized controlled studies featuring long-term follow-up of adults receiving different modes of treatment of classic CAH, and practice varies.
“There are no randomized controlled studies featuring long-term follow-up of adults receiving different modes of treatment of classic CAH, and practice varies (202, 203).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [203]
The prevalence of testicular adrenal rest tumors is variable and increases after 10 years of age.
“The prevalence of testicular adrenal rest tumors (TARTs) is variable, increasing after 10 years of age (203, 224).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [203]
Women with CAH are often overweight, but patients older than 30 years had similar fat mass to age-matched controls.
“Women with CAH are often overweight (202, 203, 260), but patients with CAH .30years of age had similar fat mass to age-matched controls.”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [203]
Two large cohort studies of adults with CAH reported a high prevalence of osteopenia and a modestly increased prevalence of osteoporosis.
“Two studies of large cohorts of adults with CAH reported a high prevalence of osteopenia (BMD T-scores, 21.0 to 22.5 SD) and a modestly increased prevalence of osteoporosis (202,203).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [203]
Despite life-saving glucocorticoid and fludrocortisone therapies, many children and adults with CAH commonly experience adverse outcomes.
“As reviewed in the sections above, despite life-saving GC and fludrocortisone acetate therapies, many children and adults with CAH commonly experience adverse outcomes (202,203).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [203]
Patients with congenital adrenal hyperplasia have increased morbidity and mortality in adult life that may in part relate to suboptimal glucocorticoid therapy in their early years of life.
“Patients have an increased morbidity and mortality in adult life that may in part relate to suboptimal glucocorticoid therapy in their early years of life ( Finkielstain et al., 2012 ; Han et al., 2014 ; Bancos et al., 2015 ; Bornstein et al., 2016 ).”
From Insights in the maturational processes influencing hydrocortisone pharmacokinetics in congenital adrenal hyperplasia patients using a middle-out approach (2023) · cites this paper as Finkielstain et al., 2012
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Pediatric low-BMD cutoff changes
MinorThe methods include a Z score of exactly −2 in the low-BMD category, whereas the results describe that category using a strict cutoff below −2.
“In children, low BMD was defined as a Z score of −2 sd or less at the lumbar spine and/or whole body adjusted for age, gender, and body size, as appropriate (18).”
“Patients with a low BMD (Z score < −2) did not differ from patients with a normal BMD in terms of age, sex, CAH phenotype, or hydrocortisone dose;”
Negative values reported as r2
MinorThe two reported r2 values are negative, but a squared correlation cannot be negative. If −0.30 is the correlation coefficient, its square is 0.09 rather than −0.30.
Reported -0.3 · recomputed 0.09
“Lower adult height SDS was correlated with older age (r2 = −0.30; P = 0.006), especially in classic patients (r2 = −0.43; P = 0.001).”
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Speiser, P. W., Arlt, W., Auchus, R. J., Baskin, L. S., Conway, G. S., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S. E., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01865 · Cited by 1,234 · see citing works
Self-citationCongenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669 · see citing works
Self-citationCongenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Self-citationCongenital adrenal hyperplasia due to 21-hydroxylase deficiency
Merke, D. P., & Auchus, R. J. (2020) · New England Journal of Medicine · doi:10.1056/nejmra1909786 · Cited by 341 · see citing works
Self-citationFalhammar, H., Frisén, L., Hirschberg, A. L., Norrby, C., Almqvist, C., Nordenskjöld, A., & Nordenström, A. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2093 · Cited by 204 · see citing works
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Falhammar, H., Frisén, L., Norrby, C., Hirschberg, A. L., Almqvist, C., Nordenskjöld, A., & Nordenström, A. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2957 · Cited by 196 · see citing works
Mallappa, A., Sinaii, N., Kumar, P., Whitaker, M. J., Daley, L.-A., Digweed, D., Eckland, D. J. A., Van Ryzin, C., Nieman, L. K., Arlt, W., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3809 · Cited by 167 · see citing works
Self-citationEngels, M., Span, P. N., van Herwaarden, A. E., Sweep, F. C. G. J., Stikkelbroeck, N. M. M. L., & Claahsen-van der Grinten, H. L. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00258 · Cited by 163 · see citing works
Nordenström, A., & Falhammar, H. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0712 · Cited by 158 · see citing works
A new dawn for androgens: novel lessons from 11-oxygenated C19 steroids
Pretorius, E., Arlt, W., & Storbeck, K.-H. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2016.08.014 · Cited by 142 · see citing works
Management of adolescents with congenital adrenal hyperplasia
Merke, D. P., & Poppas, D. P. (2013) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(13)70138-4 · Cited by 134 · see citing works
Self-citationKrone, N., Rose, I. T., Willis, D. S., Hodson, J., Wild, S. H., Doherty, E. J., Hahner, S., Parajes, S., Stimson, R. H., Han, T. S., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3343 · Cited by 119 · see citing works
Falhammar, H., & Nordenström, A. (2015) · Endocrine · doi:10.1007/s12020-015-0656-0 · Cited by 127 · see citing works
Tamhane, S., Rodriguez-Gutierrez, R., Iqbal, A. M., Prokop, L. J., Bancos, I., Speiser, P. W., & Murad, M. H. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01862 · Cited by 123 · see citing works
Whitaker, M. J., Debono, M., Huatan, H., Merke, D. P., Arlt, W., & Ross, R. J. (2014) · Clinical Endocrinology · doi:10.1111/cen.12316 · Cited by 121 · see citing works
Self-citationApproach to the patient: the adult with congenital adrenal hyperplasia
Auchus, R. J., & Arlt, W. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1440 · Cited by 121 · see citing works
Bouvattier, C., Esterle, L., Renoult-Pierre, P., de la Perrière, A. B., Illouz, F., Kerlan, V., Pascal-Vigneron, V., Drui, D., Christin-Maitre, S., Galland, F., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-4124 · Cited by 116 · see citing works
Management challenges and therapeutic advances in congenital adrenal hyperplasia
Mallappa, A., & Merke, D. P. (2022) · Nature Reviews Endocrinology · doi:10.1038/s41574-022-00655-w · Cited by 113 · see citing works
Self-citationTurcu, A. F., Mallappa, A., Elman, M. S., Avila, N. A., Marko, J., Rao, H., Tsodikov, A., Auchus, R. J., & Merke, D. P. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-3989 · Cited by 107 · see citing works
Self-citationTreatment and health outcomes in adults with congenital adrenal hyperplasia
Han, T. S., Walker, B. R., Arlt, W., & Ross, R. J. (2014) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2013.239 · Cited by 102 · see citing works
Falhammar, H., Butwicka, A., Landén, M., Lichtenstein, P., Nordenskjöld, A., Nordenström, A., & Frisén, L. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-3707 · Cited by 98 · see citing works
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency
Auchus, R. J., Buschur, E. O., Chang, A. Y., Hammer, G. D., Ramm, C., Madrigal, D., Wang, G., Gonzalez, M., Xu, X. S., Smit, J. W., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1258 · Cited by 97 · see citing works
El-Maouche, D., Hargreaves, C. J., Sinaii, N., Mallappa, A., Veeraraghavan, P., & Merke, D. P. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00208 · Cited by 93 · see citing works
Self-citationNella, A. A., Mallappa, A., Perritt, A. F., Gounden, V., Kumar, P., Sinaii, N., Daley, L.-A., Ling, A., Liu, C.-Y., Soldin, S. J., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-1916 · Cited by 91 · see citing works
Self-citationModified-Release Hydrocortisone in Congenital Adrenal Hyperplasia
Merke, D. P., Mallappa, A., Arlt, W., Brac de la Perriere, A., Lindén Hirschberg, A., Juul, A., Newell-Price, J., Perry, C. G., Prete, A., Rees, D. A., et al. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab051 · Cited by 109 · see citing works
Self-citationWhittle, E., & Falhammar, H. (2019) · Journal of the Endocrine Society · doi:10.1210/js.2019-00136 · Cited by 87 · see citing works
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia
Falhammar, H., Filipsson Nyström, H., Wedell, A., Brismar, K., & Thorén, M. (2013) · European Journal of Endocrinology · doi:10.1530/eje-12-0865 · Cited by 82 · see citing works
Han, T. S., Krone, N., Willis, D. S., Conway, G. S., Hahner, S., Rees, D. A., Stimson, R. H., Walker, B. R., Arlt, W., Ross, R. J., et al. (2013) · European Journal of Endocrinology · doi:10.1530/eje-13-0128 · Cited by 79 · see citing works
Subbarayan, A., Dattani, M. T., Peters, C. J., & Hindmarsh, P. C. (2014) · Clinical Endocrinology · doi:10.1111/cen.12265 · Cited by 73 · see citing works
Smeets, E. E. J. W., Span, P. N., van Herwaarden, A. E., Wevers, R. A., Hermus, A. R. M. M., Sweep, F. C. G. J., & Claahsen-van der Grinten, H. L. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2036 · Cited by 70 · see citing works
Management considerations for the adult with congenital adrenal hyperplasia
Auchus, R. J. (2015) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2015.01.039 · Cited by 65 · see citing works
Han, T. S., Conway, G. S., Willis, D. S., Krone, N., Rees, D. A., Stimson, R. H., Arlt, W., Walker, B. R., Ross, R. J., & (CaHASE), T. U. K. C. A. H. A. S. E. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1486 · Cited by 65 · see citing works
Neumann, U., Whitaker, M. J., Wiegand, S., Krude, H., Porter, J., Davies, M., Digweed, D., Voet, B., Ross, R. J., & Blankenstein, O. (2018) · Clinical Endocrinology · doi:10.1111/cen.13447 · Cited by 64 · see citing works
Turcu, A. F., Spencer-Segal, J. L., Farber, R. H., Luo, R., Grigoriadis, D. E., Ramm, C. A., Madrigal, D., Muth, T., O'Brien, C. F., & Auchus, R. J. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3574 · Cited by 61 · see citing works
Bilateral Adrenalectomy in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis
MacKay, D., Nordenström, A., & Falhammar, H. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00217 · Cited by 59 · see citing works
Rangaswamaiah, S., Gangathimmaiah, V., Nordenstrom, A., & Falhammar, H. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00493 · Cited by 59 · see citing works
Quality of compounded hydrocortisone capsules used in the treatment of children
Neumann, U., Burau, D., Spielmann, S., Whitaker, M. J., Ross, R. J., Kloft, C., & Blankenstein, O. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0248 · Cited by 56 · see citing works
Debono, M., Mallappa, A., Gounden, V., Nella, A. A., Harrison, R. F., Crutchfield, C. A., Backlund, P. S., Soldin, S. J., Ross, R. J., & Merke, D. P. (2015) · European Journal of Endocrinology · doi:10.1530/eje-15-0064 · Cited by 53 · see citing works
Self-citationEl‐Maouche, D., Collier, S., Prasad, M., Reynolds, J. C., & Merke, D. P. (2015) · Clinical Endocrinology · doi:10.1111/cen.12507 · Cited by 53 · see citing works
Self-citationPaizoni, L., Auer, M. K., Schmidt, H., Hübner, A., Bidlingmaier, M., & Reisch, N. (2020) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2019.105540 · Cited by 53 · see citing works
Pofi, R., Prete, A., Thornton-Jones, V., Bryce, J., Ali, S. R., Faisal Ahmed, S., Balsamo, A., Baronio, F., Cannuccia, A., Guven, A., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz055 · Cited by 53 · see citing works
Hayashi, G. Y., Carvalho, D. F., de Miranda, M. C., Faure, C., Vallejos, C., Brito, V. N., Rodrigues, A. D. S., Madureira, G., Mendonca, B. B., & Bachega, T. A. S. S. (2017) · Clinical Endocrinology · doi:10.1111/cen.13292 · Cited by 52 · see citing works
Gilban, D. L. S., Alves Junior, P. A. G., & Beserra, I. C. R. (2014) · Health and Quality of Life Outcomes · doi:10.1186/s12955-014-0107-2 · Cited by 51 · see citing works
Is physiological glucocorticoid replacement important in children?
Porter, J., Blair, J., & Ross, R. J. (2017) · Archives of Disease in Childhood · doi:10.1136/archdischild-2015-309538 · Cited by 50 · see citing works
Whitaker, M. J., Spielmann, S., Digweed, D., Huatan, H., Eckland, D., Johnson, T. N., Tucker, G., Krude, H., Blankenstein, O., & Ross, R. J. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-4060 · Cited by 48 · see citing works
Psychoendocrinology of Congenital Adrenal Hyperplasia
Meyer-Bahlburg, H. F. L. (2014) · Genetic Steroid Disorders · doi:10.1016/b978-0-12-416006-4.00023-5 · Cited by 48 · see citing works
Mallappa, A., Nella, A. A., Sinaii, N., Rao, H., Gounden, V., Perritt, A. F., Kumar, P., Ling, A., Liu, C., Soldin, S. J., et al. (2018) · Clinical Endocrinology · doi:10.1111/cen.13813 · Cited by 45 · see citing works
Self-citationTildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies
Sarafoglou, K., Barnes, C. N., Huang, M., Imel, E. A., Madu, I.-J., Merke, D. P., Moriarty, D., Nakhle, S., Newfield, R. S., Vogiatzi, M. G., et al. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab438 · Cited by 46 · see citing works
Self-citationFalhammar, H., Frisén, L., Hirschberg, A. L., Nordenskjöld, A., Almqvist, C., & Nordenström, A. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab712 · Cited by 42 · see citing works
Fetal endocrine therapy for congenital adrenal hyperplasia should not be done
Miller, W. L. (2015) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2015.01.005 · Cited by 40 · see citing works
Ali, S. R., Bryce, J., Haghpanahan, H., Lewsey, J. D., Tan, L. E., Atapattu, N., Birkebaek, N. H., Blankenstein, O., Neumann, U., Balsamo, A., et al. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa694 · Cited by 39 · see citing works
Jha, S., Turcu, A. F., Sinaii, N., Brookner, B., Auchus, R. J., & Merke, D. P. (2021) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaa192 · Cited by 39 · see citing works
Self-citationA Phase 2, Multicenter Study of Nevanimibe for the Treatment of Congenital Adrenal Hyperplasia
El-Maouche, D., Merke, D. P., Vogiatzi, M. G., Chang, A. Y., Turcu, A. F., Joyal, E. G., Lin, V. H., Weintraub, L., Plaunt, M. R., Mohideen, P., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa381 · Cited by 34 · see citing works
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Kocova, M., Anastasovska, V., & Falhammar, H. (2020) · Endocrine · doi:10.1007/s12020-020-02323-3 · Cited by 24 · see citing works
Turcu, A. F., Mallappa, A., Nella, A. A., Chen, X., Zhao, L., Nanba, A. T., Byrd, J. B., Auchus, R. J., & Merke, D. P. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.751191 · Cited by 20 · see citing works
“Supra-physiologic glucocorticoid use contributes to higher rates of obesity, metabolic syndrome, and bone mass decline in adults with 21OHD (4, 5).”
BackgroundMethodSelf-citationAdrenal morphology and associated comorbidities in congenital adrenal hyperplasia
El‐Maouche, D., Hannah‐Shmouni, F., Mallappa, A., Hargreaves, C. J., Avila, N. A., & Merke, D. P. (2019) · Clinical Endocrinology · doi:10.1111/cen.13996 · Cited by 20 · see citing works
Self-citationDagalakis, U., Mallappa, A., Elman, M., Quezado, M., & Merke, D. P. (2016) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-016-0028-4 · Cited by 10 · see citing works
Self-citationRisk factors for hospitalization of children with congenital adrenal hyperplasia
Yang, M., & White, P. C. (2017) · Clinical Endocrinology · doi:10.1111/cen.13309 · Cited by 7 · see citing works
Michelet, R., Bindellini, D., Melin, J., Neumann, U., Blankenstein, O., Huisinga, W., Johnson, T. N., Whitaker, M. J., Ross, R., & Kloft, C. (2023) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.1090554 · Cited by 5 · see citing works
- Authors
- Finkielstain, G. P., Kim, M. S., Sinaii, N., Nishitani, M., Van Ryzin, C., Hill, S. C., Reynolds, J. C., Hanna, R. M., & Merke, D. P.
- Affiliations
- National Institutes of Health (US)
- NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817
- Corresponding author
- Merke, Deborah P.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2012-12-01
- Volume
- 97
- Issue
- 12
- Pages
- 4429-4438
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC3513542
- OpenAlex
- W1977128264
- Semantic Scholar
- e8b49726b89fe97247c79184ea53a84040409628
- Cited by
- 313
- References
- 50
- Citations by year
- 2026: 17 · 2025: 18 · 2024: 24 · 2023: 27 · 2022: 22 · 2021: 26 · 2020: 24 · 2019: 30 · 2018: 24 · 2017: 18 · 2016: 23 · 2015: 25 · 2014: 14 · 2013: 17 · 2012: 2
- FWCI
- 7.45
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (UL1TR000130)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- congenital adrenal hyperplasia, late complications, glucocorticoid therapy, adult height, obesity, hypertension, plasma renin activity, insulin resistance, metabolic syndrome, bone mineral density, osteoporosis, vitamin D deficiency, hirsutism, hyperandrogenism, natural history (disease)
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Aged, Child, Child, Preschool, Clinical Trials as Topic, Cross-Sectional Studies, Female, Glucocorticoids, Humans, Infant, Male, Middle Aged, Prognosis, Time Factors, United States, Cohort Studies, Comorbidity, Disease Progression, Young Adult
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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