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Cited by 1,468Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

The DOI matches its Crossref record; 353 of the 354 references it cites were found in a registry or an index, and 1 are not checked yet; none of the 331 sources its claims cite is checked for support yet.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline.

Open access
Speiser, Phyllis W., Azziz, Ricardo, Baskin, Laurence S., Ghizzoni, Lucia, Hensle, Terry W., Merke, Deborah P., Meyer-Bahlburg, Heino F. L., Miller, Walter L., Montori, Victor M., Oberfield, Sharon E., Ritzen, Martin, White, Perrin C.·2010·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2009-2631PMC PMC2936060
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Abstract

OBJECTIVE: We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). PARTICIPANTS: The Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced in treating CAH, a methodologist, and a medical writer. Additional experts were also consulted. The authors received no corporate funding or remuneration. CONSENSUS PROCESS: Consensus was guided by systematic reviews of evidence and discussions. The guidelines were reviewed and approved sequentially by The Endocrine Society's CGS and Clinical Affairs Core Committee, members responding to a web posting, and The Endocrine Society Council. At each stage, the Task Force incorporated changes in response to written comments. CONCLUSIONS: We recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests. We recommend that prenatal treatment of CAH continue to be regarded as experimental. The diagnosis rests on clinical and hormonal data; genotyping is reserved for equivocal cases and genetic counseling. Glucocorticoid dosage should be minimized to avoid iatrogenic Cushing's syndrome. Mineralocorticoids and, in infants, supplemental sodium are recommended in classic CAH patients. We recommend against the routine use of experimental therapies to promote growth and delay puberty; we suggest patients avoid adrenalectomy. Surgical guidelines emphasize early single-stage genital repair for severely virilized girls, performed by experienced surgeons. Clinicians should consider patients' quality of life, consulting mental health professionals as appropriate. At the transition to adulthood, we recommend monitoring for potential complications of CAH. Finally, we recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.

Checked 2026-10-14 · 1 reference not checked yet

Overview

Integrity signals

Registry

Crossref · 10.1210/jc.2009-2631

Cites

353 of 354 references verified0 citation errors · 0 not checkable

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Verification

Claims the paper makes

193 Sources not found · 24 Own interpretation · 12 No basis given · 1 Not checked yet

Show all 127 claims

  • It may state two separate claims as one. 90
  • Probably not a substantial claim. 16
103 of 103

  • The paper relies on this without support.

    21-hydroxylase deficiency accounts for approximately 95% of congenital adrenal hyperplasia.

    “Because this enzyme deficiency accounts for approximately 95% of CAH, we will discuss only 21-hydroxylase deficiency here.”

  • The paper relies on this without support.

    Disease severity correlates with CYP21A2 allelic variation.

    “Disease severity correlates with CYP21A2 allelic variation.”

  • The paper relies on this without support.

    A nonconservative amino substitution in exon 4 (Ile172Asn) that preserves approximately 1-2% of enzyme function is associated with simple virilizing classic congenital adrenal hyperplasia.

    “A nonconservative amino substitution in exon 4 (Ile172Asn) that preserves approximately 1-2% of enzyme function is associated with simple virilizing classic CAH.”

  • The paper relies on this without support.

    17-hydroxyprogesterone levels are normally high at birth and decrease rapidly during the first few postnatal days.

    “In interpreting these tests, it must be remembered that 17-OHP levels are normally high at birth and decrease rapidly during the first few postnatal days.”

  • The paper relies on this without support.

    17-hydroxyprogesterone levels increase with time in infants affected with congenital adrenal hyperplasia.

    “In contrast, 17-OHP levels increase with time in infants affected with CAH.”

  • The paper relies on this without support.

    Premature, sick, or stressed infants typically have higher levels of 17-hydroxyprogesterone than term infants and generate many false positives unless higher cutoffs are used.

    “Additionally, premature, sick, or stressed infants typically have higher levels of 17-OHP than term infants and generate many false positives unless higher cutoffs are used.”

  • The paper relies on this without support.

    To obtain adequate sensitivity, cutoff levels for 17-hydroxyprogesterone are typically set low enough that approximately 1% of all tests are reported as positive.

    “To obtain adequate sensitivity, the cutoff levels for 17-OHP are typically set low enough that approximately 1% of all tests are reported as positive.”

  • The paper relies on this without support.

    Limitations of immunoassays for 17-hydroxyprogesterone include true elevations in levels in premature, sick, or stressed infants and lack of specificity of some antibodies for 17-hydroxyprogesterone.

    “Limitations of immunoassays for 17-OHP include true elevations in levels in premature, sick, or stressed infants and lack of specificity of some antibodies for 17-OHP.”

  • The paper relies on this without support.

    Immunoassay specificity can be increased by organic solvent extraction; this is currently mandated as a second screen in four states.

    “Immunoassay specificity can be increased by organic solvent extraction; this is currently mandated as a second screen in four states.”

  • The paper relies on this without support.

    CYP21A2 mutations can be detected in DNA extracted from the same dried blood spots that are used for hormonal screening.

    “CYP21A2 mutations can be detected in DNA extracted from the same dried blood spots that are used for hormonal screening.”

  • The paper relies on this without support.

    Genotyping is more costly than LC-MS/MS on a per-sample basis.

    “Genotyping is more costly than LC-MS/MS on a per-sample basis.”

  • The paper relies on this without support.

    Congenital adrenal hyperplasia is autosomal recessive; if a woman has previously had a child with congenital adrenal hyperplasia and again becomes pregnant via the same partner, her fetus will have a one in four chance of having congenital adrenal hyperplasia.

    “CAH is autosomal recessive; if a woman has previously had a child with CAH and again becomes pregnant via the same partner, her fetus will have a one in four chance of having CAH.”

  • The paper relies on this without support.

    Obtaining fetal DNA at chorionic villous biopsy reduces the length of time between instituting treatment and obtaining a genetic diagnosis.

    “Obtaining fetal DNA at chorionic villous biopsy reduces the length of time between instituting treatment and obtaining a genetic diagnosis.”

  • The paper relies on this without support.

    Knowing the specific mutations carried by each parent substantially increases the efficiency and speed of genetic diagnosis.

    “Knowing the specific mutations carried by each parent substantially increases the efficiency and speed of genetic diagnosis.”

  • The paper relies on this without support.

    Prescription of dexamethasone for prenatal treatment of congenital adrenal hyperplasia is an off-label use in the United States and European Union.

    “Prescription of dexamethasone for prenatal treatment of CAH is an offlabel use in the United States and European Union.”

  • The paper relies on this without support.

    The diagnosis of 21-hydroxylase deficiency is based on measuring 17-OHP and excluding 11-hydroxylase and P450 oxidoreductase deficiencies, in which 17-OHP may also be elevated.

    “The diagnosis of 21-hydroxylase deficiency is based on measuring 17-OHP, the enzyme's principal substrate, and excluding 11-hydroxylase and P450 oxidoreductase deficiencies, in which 17-OHP may also be elevated.”

  • The paper relies on this without support.

    Other steroids whose levels are usually elevated include 21-deoxycortisol, androstenedione, and testosterone.

    “Other steroids whose levels are usually elevated include 21-deoxycortisol, androstenedione, and testosterone.”

  • The paper relies on this without support.

    The severity of hormonal abnormalities depends on the degree of the enzymatic impairment, which depends on the genotype.

    “The severity of hormonal abnormalities depends on the degree of the enzymatic impairment, which depends on the genotype.”

  • The paper relies on this without support.

    A genetic test cannot detect salt wasting; this requires careful clinical evaluation.

    “A genetic test cannot detect salt wasting; this requires careful clinical evaluation.”

  • The paper relies on this without support.

    Compound heterozygotes for two different CYP21A2 mutations usually have a phenotype compatible with the milder mutation.

    “Compound heterozygotes for two different CYP21A2 mutations usually have a phenotype compatible with the milder mutation.”

  • The paper relies on this without support.

    Proper treatment with glucocorticoids prevents adrenal crisis and virilization, allowing normal growth and development.

    “Proper treatment with GCs prevents adrenal crisis and virilization, allowing normal growth and development.”

  • The paper relies on this without support.

    Undertreatment carries the risk of adrenal crisis and allows increased adrenal androgen production, with accelerated bone age and loss of growth potential; overtreatment may suppress growth, increase blood pressure, and cause iatrogenic Cushing's syndrome.

    “Undertreatment carries the risk of adrenal crisis and allows increased adrenal androgen production, with accelerated bone age and loss of growth potential; overtreatment may suppress growth, increase blood pressure, and cause iatrogenic Cushing's syndrome.”

  • The paper relies on this without support.

    Attempts to completely normalize 17-OHP levels typically result in overtreatment.

    “Attempts to completely normalize 17-OHP levels typically result in overtreatment.”

  • The paper relies on this without support.

    Infants with salt-wasting 21-hydroxylase deficiency require mineralocorticoids in addition to glucocorticoid treatment as well as supplemental sodium chloride.

    “Infants with salt-wasting 21-hydroxylase deficiency require MCs in addition to GC treatment as well as supplemental sodium chloride.”

  • The paper relies on this without support.

    The requirement for sodium in normally growing infants is approximately 1 mmol/kg per day, the amount provided by human milk.

    “The requirement for sodium in normally growing infants is approximately 1 mmol/kg ⅐ d, the amount provided by human milk.”

  • The paper relies on this without support.

    When pharmacological doses of hydrocortisone are given, mineralocorticoids are not needed because hydrocortisone can activate mineralocorticoid receptors.

    “When pharmacological doses of HC are given, MCs are not needed because HC can activate MC receptors.”

  • The paper relies on this without support.

    Either a reduced or an accelerated height velocity, signs of virilization, and delayed or premature bone maturation usually occur after protracted under- or overtreatment.

    “Either a reduced or an accelerated height velocity, signs of virilization, and delayed or premature bone maturation usually occur after protracted under-or overtreatment.”

  • The paper relies on this without support.

    17-OHP, androstenedione, and testosterone are the best indicators of the adequacy of glucocorticoid treatment.

    “17-OHP, androstenedione, and testosterone are the best indicators of the adequacy of GC treatment.”

  • The paper relies on this without support.

    Normal levels of 17-OHP and the other steroids are not a treatment goal but instead indicate overtreatment.

    “Normal levels of 17-OHP and the other steroids are not a treatment goal but instead indicate overtreatment.”

  • The paper relies on this without support.

    ACTH measurements are not useful for a diagnostic or therapeutic profile in CAH patients.

    “ACTH measurements are not useful for a diagnostic or therapeutic profile in CAH patients.”

  • The paper relies on this without support.

    Acceptably treated CAH patients generally have mildly elevated steroid levels when measured in a consistent manner, and dose adjustments should be made in the context of the overall clinical picture and not solely based on a single 17-OHP measurement.

    “Acceptably treated CAH patients generally have mildly elevated steroid levels when measured in a consistent manner, and dose adjustments should be made in the context of the overall clinical picture and not solely based on a single 17-OHP measurement.”

  • The paper relies on this without support.

    In adolescents with irregular menses and acne, symptoms are usually reversed within 3 months of glucocorticoid treatment, whereas remission of hirsutism is more difficult to achieve with glucocorticoid monotherapy.

    “In adolescents with irregular menses and acne, symptoms are usually reversed within 3 months of GC treatment, whereas remission of hirsutism is more difficult to achieve with GC monotherapy.”

  • The paper relies on this without support.

    Prolonged steroid therapy may reduce bone mineral density.

    “Prolonged steroid therapy may reduce BMD.”

  • The paper relies on this without support.

    The implied surgical advantage of delayed reconstruction is that the risk of vaginal stenosis and the need for subsequent dilation is diminished.

    “The implied surgical advantage of delayed reconstruction is that the risk of vaginal stenosis and the need for subsequent dilation is diminished.”

  • The paper relies on this without support.

    In infants with severe virilization where clitoroplasty is being considered, the advantages of early complete reconstruction are that the phallic skin can also be used as part of the vaginal reconstruction and gives the surgeon much more flexibility.

    “In infants with severe virilization where clitoroplasty is being considered, the advantages of early complete reconstruction are that the phallic skin can also be used as part of the vaginal reconstruction and gives the surgeon much more flexibility.”

  • The paper relies on this without support.

    Significant postoperative complications may occur after early or late surgery, such as urethra-vaginal fistulae and vaginal stenosis.

    “Systematic long-term evaluation is lacking for both early and late surgery, for which significant postoperative complications may occur, such as urethra-vaginal fistulae and vaginal stenosis.”

  • The paper relies on this without support.

    The incidence of urogenital sinus anomalies associated with CAH has not decreased.

    “In contrast to other significant congenital abnormalities of the genitourinary system (bladder exstrophy, prune belly syndrome, and posterior urethral valves), the incidence of urogenital sinus anomalies associated with CAH has not decreased.”

  • The paper relies on this without support.

    The adult short stature of many CAH patients may be caused by hypercortisolism, hyperandrogenism, or both.

    “The adult short stature of many CAH patients may be caused by hypercortisolism, hyperandrogenism, or both.”

  • The paper relies on this without support.

    Patients with NCCAH can also have compromised adult height, but height deficit is less severe than with classic CAH.

    “Patients with NCCAH can also have compromised adult height, but height deficit is less severe than with classic CAH.”

  • The paper relies on this without support.

    Normal adult height can be achieved in CAH with judicious use of standard glucocorticoid and mineralocorticoid therapies.

    “Normal adult height can be achieved in CAH with judicious use of standard GC and MC therapies, and height-enhancing drugs are not recommended for individuals whose height is, or is expected to be, more than Ϫ2.25 SD.”

  • The paper relies on this without support.

    Bilateral adrenalectomy reduces the risk of virilization in females and allows for treatment with lower glucocorticoid doses.

    “Bilateral adrenalectomy reduces the risk of virilization in females and allows for treatment with lower GC doses.”

  • The paper relies on this without support.

    Objections to adrenalectomy are based on surgical risk, possible increased risk of adrenal crisis due to loss of protective residual adrenal function, and possible loss of hormones that may have beneficial effects such as epinephrine and DHEA.

    “Objections to adrenalectomy are based on surgical risk, possible increased risk of adrenal crisis due to loss of protective residual adrenal function, and possible loss of hormones that may have beneficial effects such as epinephrine and DHEA.”

  • The paper relies on this without support.

    Individuals with a history of noncompliance are poor candidates for adrenalectomy because postoperative noncompliance in an adrenalectomized patient could be fatal.

    “Individuals with a history of noncompliance are poor candidates for adrenalectomy because postoperative noncompliance in an adrenalectomized patient could be fatal.”

  • The paper relies on this without support.

    Existing glucocorticoid therapy is nonphysiological and may contribute to adverse outcomes.

    “Existing GC therapy is nonphysiological and may contribute to adverse outcomes.”

  • The paper relies on this without support.

    The clinical implications of epinephrine deficiency are not fully known, but it likely plays a role in the risk for hypoglycemia during febrile illnesses, especially in young children.

    “The clinical implications of epinephrine deficiency are not fully known, but it likely plays a role in the risk for hypoglycemia during febrile illnesses, especially in young children.”

  • The paper relies on this without support.

    Current GC therapy for CAH is suboptimal because supraphysiological doses are often needed to suppress adrenal androgens.

    “Current GC therapy for CAH is suboptimal because supraphysiological doses are often needed to suppress adrenal androgens.”

  • The paper relies on this without support.

    Excess GC places patients at risk for iatrogenic Cushing's syndrome.

    “Excess GC places patients at risk for iatrogenic Cushing's syndrome, and lower-dose GC leads to inadequately treated androgen excess.”

  • The paper relies on this without support.

    Lower-dose GC leads to inadequately treated androgen excess.

    “Excess GC places patients at risk for iatrogenic Cushing's syndrome, and lower-dose GC leads to inadequately treated androgen excess.”

  • The paper relies on this without support.

    NCCAH patients reach higher than 1000 ng/dl (33 nmol/liter) after ACTH stimulation.

    “ACTH stimulation is needed for patients with baseline 17-OHP around the cutoff; NCCAH patients reach higher than 1000 ng/dl (33 nmol/ liter).”

  • The paper relies on this without support.

    Testicular adrenal rest tumors are common in adults with classic CAH but seem to be rare in NCCAH.

    “Testicular adrenal rest tumors are common in adults with classic CAH but seem to be rare in NCCAH.”

  • The paper relies on this without support.

    Adults with classic CAH are treated to avoid symptoms of adrenocortical deficiency in both sexes; hyperandrogenism, voice changes, and infertility in women; and testicular tumors in men.

    “Adults with classic CAH are treated to avoid symptoms of adrenocortical deficiency in both sexes; hyperandrogenism, voice changes, and infertility in women; and testicular tumors in men.”

  • The paper relies on this without support.

    Overtreatment with GCs will cause Cushingoid features, and excess MCs will cause hypertension.

    “However, overtreatment with GCs will cause Cushingoid features, and excess MCs will cause hypertension.”

  • The paper relies on this without support.

    GC substitution in the adult CAH patient aims to suppress virilization and menstrual disturbance in women, alteration of gonadotropin secretion in both sexes, and testicular adrenal rest tumors in men.

    “GC substitution in the adult CAH patient aims to suppress virilization and menstrual disturbance in women, alteration of gonadotropin secretion in both sexes, and testicular adrenal rest tumors in men.”

  • The paper relies on this without support.

    GC overtreatment may cause Cushingoid symptoms, whereas undertreatment may cause Addisonian symptoms.

    “GC overtreatment may cause Cushingoid symptoms, whereas undertreatment may cause Addisonian symptoms.”

  • The paper relies on this without support.

    Overtreatment with MCs may cause hypertension; undertreatment may lead to low blood pressure, salt loss, fatigue, and increased requirements for GC replacement.

    “Overtreatment with MCs may cause hypertension; undertreatment may lead to low blood pressure, salt loss, fatigue, and increased requirements for GC replacement.”

  • The paper relies on this without support.

    The principles of monitoring GC treatment in adult CAH patients are similar to those employed in monitoring children.

    “The principles of monitoring GC treatment in adult CAH patients are similar to those employed in monitoring children.”

  • The paper relies on this without support.

    Testosterone levels in men normally reflect gonadal rather than adrenal function and therefore are not useful for monitoring therapy.

    “Optimal levels for 17-OHP and androstenedione have not been defined; testosterone levels in men normally reflect gonadal rather than adrenal function and therefore are not useful for monitoring therapy.”

  • The paper relies on this without support.

    17-OHP may be elevated at night, even when morning levels are acceptable.

    “17-OHP may be elevated at night, even when morning levels are acceptable.”

  • The paper relies on this without support.

    Women with CAH are often overweight, with high blood pressure and hyperinsulinemia, and have risk factors for cardiovascular disease.

    “Women with CAH are often overweight, with high blood pressure and hyperinsulinemia, and have risk factors for cardiovascular disease.”

  • The paper relies on this without support.

    CAH is autosomal recessive.

    “CAH is autosomal recessive.”

  • The paper relies on this without support.

    The genotype and phenotype correlate well; siblings with CAH generally, but not always, have similar symptoms and degrees of female virilization.

    “The genotype and phenotype correlate well; siblings with CAH generally, but not always, have similar symptoms and degrees of female virilization.”

  • The paper relies on this without support.

    For NCCAH, about two thirds of patients are compound heterozygotes, carrying one allele that causes classic CAH and one that causes NCCAH.

    “For NCCAH, about two thirds of patients are compound heterozygotes, carrying one allele that causes classic CAH and one that causes NCCAH.”

  • The paper relies on this without support.

    Adult women with CAH often remember childhood visits to their physician as highly intrusive.

    “Adult women with CAH often remember childhood visits to their physician as highly intrusive.”

  • The paper relies on this without support.

    Pediatric endocrine care is usually transferred to an adult endocrinologist at the end of adolescence, usually coinciding with the completion of secondary school, i.e. typically at age 18.

    “Pediatric endocrine care is usually transferred to an adult endocrinologist at the end of adolescence, usually coinciding with the completion of secondary school, i.e. typically at age 18.”

  • The paper relies on this without support.

    Testicular adrenal rest tumors increase with age in CAH, impairing fertility.

    “Testicular adrenal rest tumors increase with age in CAH, impairing fertility.”

  • The paper relies on this without support.

    Undetected adrenal rest tumors may obstruct the seminiferous tubules, causing secondary gonadal dysfunction and infertility.

    “Undetected adrenal rest tumors may obstruct the seminiferous tubules, causing secondary go-nadal dysfunction and infertility.”

  • The paper relies on this without support.

    Higher binding globulins and placental aromatization typically protect the fetus from the potential virilizing effects of maternal androgens.

    “However, higher binding globulins and placental aromatization typically protect the fetus from the potential virilizing effects of maternal androgens.”

  • The paper relies on this without support.

    Maternal 17-OHP is elevated in normal pregnancy and hence cannot be used to monitor GC treatment.

    “Maternal 17-OHP is elevated in normal pregnancy and hence cannot be used to monitor GC treatment.”

  • The paper relies on this without support.

    Symptoms of adrenal insufficiency, including postural hypotension, may rarely develop in pregnant women with classic CAH.

    “Symptoms of adrenal insufficiency, including postural hypotension, may rarely develop in pregnant women with classic CAH.”

  • The paper relies on this without support.

    Patients with CAH may experience psychosocial and psychiatric problems that are not specific to CAH.

    “Patients with CAH may experience psychosocial and psychiatric problems that are not specific to CAH.”

  • The paper relies on this without support.

    These can usually be managed by standard mental health clinicians.

    “These can usually be managed by standard mental health clinicians.”

  • The paper relies on this without support.

    The 46,XX patients with CAH may also have to cope with problems that are more specific to DSD, such as parent/family medical education, gender assignment, decisions on genital surgery, and referral for psychological gender evaluation.

    “The 46,XX patients with CAH may also have to cope with problems that are more specific to DSD, such as 1) parent/family medical education, parent/family counseling regarding psychosocial prognosis, and managing parents' distress; 2) gender assignment at birth in cases of marked genital virilization; 3) decisions on gender-confirming (not medically necessitated) genital surgery in infancy and early”

  • The paper relies on this without support.

    Apart from urinary tract malformations in a minority of CAH girls, genital ambiguity usually does not require urgent surgical intervention.

    “Apart from urinary tract malformations in a minority of CAH girls, genital ambiguity usually does not require urgent surgical intervention.”

  • The paper relies on this without support.

    Severely virilized cases may initially be assigned as males, and once such assignment has been made, it may be difficult to reverse, thereby sacrificing fertility.

    “Severely virilized cases may initially be assigned as males, and once such assignment has been made, it may be difficult to reverse, thereby sacrificing fertility.”

  • The paper relies on this without support.

    In markedly virilized female-raised children, surgical intervention can facilitate heterosexual intercourse and conception, if desired.

    “In markedly virilized female-raised children, surgical intervention can facilitate heterosexual intercourse and conception, if desired.”

  • The paper relies on this without support.

    Fertility and fecundity, although reduced, remain feasible.

    “Fertility and fecundity, although reduced, remain feasible.”

  • The paper relies on this without support.

    Because the fetal adrenal has low levels of 3β-HSD, most steroidogenesis is directed toward DHEA, but small amounts of steroid enter the pathways toward aldosterone and cortisol.

    “Because the fetal adrenal has low levels of 3␤-HSD, most steroidogenesis is directed toward DHEA (and thence to DHEA-sulfate), but small amounts of steroid enter the pathways toward aldosterone and cortisol.”

  • The paper relies on this without support.

    The adrenal 21-hydroxylase, P450c21, is essential in both pathways.

    “The adrenal 21-hydroxylase, P450c21, is essential in both pathways.”

  • The paper relies on this without support.

    The adrenal can make small amounts of testosterone via 17β-HSD.

    “The adrenal can make small amounts of testosterone via 17␤-HSD.”

  • The paper relies on this without support.

    In the absence of the 21-hydroxylase activity of P450c21, three pathways lead to androgens.

    “In the absence of the 21-hydroxylase activity of P450c21, three pathways lead to androgens.”

  • The paper relies on this without support.

    Randomly measured 17-OHP levels can be normal in NCCAH; hence, a screening 17-OHP level should be measured in the early morning (before 0800 h).

    “Note that randomly measured 17-OHP levels can be normal in NCCAH; hence, a screening 17-OHP level should be measured in the early morning (before 0800 h).”

  • The paper relies on this without support.

    Steroid measurements may differ with the assay employed.

    “Steroid measurements may differ with the assay employed.”
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Metadata

Authors
Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., Ritzen, M., & White, P. C.
Affiliations
  • Hofstra University (US)
  • Cedars-Sinai Medical Center (US)
  • National Institutes of Health (US)
  • Columbia University (US)
  • Mayo Clinic (US)
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2010-09
Volume
95
Issue
9
Pages
4133-4160
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2009-2631
PMC
PMC2936060
OpenAlex
W1972087695
Cited by
1,468
References
342
Citations by year
2026: 23 · 2025: 46 · 2024: 98 · 2023: 102 · 2022: 131 · 2021: 130 · 2020: 98 · 2019: 122 · 2018: 119 · 2017: 95 · 2016: 105 · 2015: 83 · 2014: 86 · 2013: 83 · 2012: 69
FWCI
43.30
Type
journal article
Language
en
Open access
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
Funders
  • European Society of Endocrinology
  • Pediatric Endocrine Society
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
congenital adrenal hyperplasia, 21-hydroxylase deficiency, newborn screening, fetal therapy, glucocorticoid therapy, iatrogenic Cushing's syndrome, mineralocorticoids, sodium supplementation, genital surgery, adrenalectomy, puberty suppression, growth promotion, coming of age, quality of life, genetic counseling
MeSH terms
Adrenal Hyperplasia, Congenital, Algorithms, Female, Humans, Infant, Newborn, Models, Biological, Pregnancy, Steroid 21-Hydroxylase, Comorbidity, Neonatal Screening, Evidence-Based Practice

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