Cited by 624Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.

Genotyping steroid 21-hydroxylase deficiency: hormonal reference data

NEW, MARIA I., LORENZEN, FRANZISKA, LERNER, ALAN J., KOHN, BRENDA, OBERFIELD, SHARON E., POLLACK, MARILYN S., DUPONT, BO, STONER, ELIZABETH, LEVY, DONNA J., PANG, SONGYA, LEVINE, LENORE S.·1983·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jcem-57-2-320

Open this paper in CoChat — free account

Abstract

Hormonal reference data, in the form of nomograms relating baseline and stimulated levels of adrenal hormones, provide a means of genotyping steroid 21-hydroxylase (21-OH) deficiency in congenital adrenal hyperplasia. Data from both 360- and 60-min ACTH stimulation tests are given. The serum hormone concentrations that have proven most useful in classifying 21-OH deficiency are 17-hydroxyprogesterone and delta 4-androstenedione. These nomograms clearly distinguish the patient with classical 21-OH deficiency from those with the milder symptomatic and asymptomatic nonclassical forms of 21-OH deficiency (previously referred to as late onset and cryptic forms) as well as heterozygotes for all of the forms and those subjects predicted by HLA genotyping to be unaffected. The nomograms also can identify individuals heterozygous for 21-OH deficiency in the general population who have a characteristic heterozygote response. These nomograms provide a powerful tool by which to assign the 21-OH deficiency genotype. Patients whose hormonal values fall on the regression line within a defined group are assigned to that group. In view of the strong correlation between the 60- and 360-min ACTH stimulation tests, the less cumbersome and shorter 60-min test can be used with the same confidence as the longer test.

Integrity signals

Registry

Crossref · 10.1210/jcem-57-2-320

Cites

33 of 33 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

Microdroplet Assay of Human Serum Cytotoxins
Terasaki, P. I., & McClelland, J. D. (1964) · Nature · doi:10.1038/204998b0 · Cited by 2,072
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency)
Dupont, B., Oberfield, S. E., Smithwick, E. M., Lee, T. D., & Levine, L. S. (1977) · The Lancet · doi:10.1016/s0140-6736(77)90362-2 · Cited by 371
Self-citation
Microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia
PANG, S., HOTCHKISS, J., DRASH, A. L., LEVINE, L. S., & NEW, M. I. (1977) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-45-5-1003 · Cited by 293
Self-citation
Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia
KOHN, B., LEVINE, L. S., POLLACK, M. S., PANG, S., LORENZEN, F., LEVY, D., LERNER, A. J., RONDANINI, G. F., DUPONT, B., & NEW, M. I. (1982) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-55-5-817 · Cited by 204
Self-citation
Genetic Mapping of the 21-Hydroxylase-Deficiency Gene within the HLA Linkage Group
Levine, L. S., ZACHMANN, M., New, M. I., Prader, A., Pollack, M. S., O'Neill, G. J., Yang, S. Y., Oberfield, S. E., & Dupont, B. (1978) · New England Journal of Medicine · doi:10.1056/nejm197810262991702 · Cited by 202
Self-citation
Late-Onset 21-Hydroxylase Deficiency Mimicking Idiopathic Hirsutism or Polycystic Ovarian Disease: An Allelic Variant of Congenital Virilizing Adrenal Hyperplasia with a Milder Enzymatic Defect
CHROUSOS, G. P., LORIAUX, D. L., MANN, D. L., & CUTLER, G. B. (1982) · Annals of Internal Medicine · doi:10.7326/0003-4819-96-2-143 · Cited by 158
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease
Løbo, R. A., & Goebelsmann, U. (1980) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(80)90095-2 · Cited by 157
Cryptic 21-Hydroxylase Deficiency in Families of Patients with Classical Congenital Adrenal Hyperplasia*
Levine, L. S., Dupont, B., LORENZEN, F., PANG, S., Pollack, M. S., Oberfield, S. E., Kohn, B., Lerner, A. J., CACCIARI, E., Mantero, F., et al. (1980) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-51-6-1316 · Cited by 111
Self-citation
Serum Androgens as a Continuing Index of Adequacy of Treatment of Congenital Adrenal Hyperplasia*
KORTH-SCHÜTZ, S., Virdis, R., Saenger, P. H., CHOW, D. M., Levine, L. S., & New, M. I. (1978) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-46-3-452 · Cited by 103
Self-citation
An Attenuated Form of Congenital Virilizing Adrenal Hyperplasia*
Rosenwaks, Z., Lee, P. A., Jones, G. S., Migeon, C. J., & Wentz, A. C. (1979) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-49-3-335 · Cited by 102

Show all 33 references

Sorted by citations

Items 301–400 of 623

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene
Carvalho, B., Marques, C. J., Silva, R. S., Fontoura, M., Carvalho, D. M., & Carvalho, F. (2020) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/a-1108-1419 · Cited by 25
of Some New Heterocyclic Schiff Bases Derived from Thiocarbohydrazide
El‐mahdy, K. M., El‐Kazak, A. M., Abdel‐Megid, M., Seada, M., & Farouk, O. (2016) · Acta chimica slovenica · doi:10.17344/acsi.2015.1555 · Cited by 23
Functional hyperandrogenism detected by corticotropin and GnRH-analogue stimulation tests in women affected by apparently idiopathic hirsutism
Rossi, R., Tauchmanovà, L., Luciano, A., Valentino, R., Savastano, S., Battista, C., Martino, M. D., & Lombardi, G. (2001) · Journal of Endocrinological Investigation · doi:10.1007/bf03343881 · Cited by 23
Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
Dolžan, V., Preželj, J., Vidan‐Jeras, B., & Breskvar, K. (1999) · European Journal of Endocrinology · doi:10.1530/eje.0.1410132 · Cited by 23
Screening for Late-Onset Congenital Adrenal Hyperplasia in Hirsutism or Amenorrhea
Baskin, H. J. (1987) · Archives of Internal Medicine · doi:10.1001/archinte.147.5.847 · Cited by 23
Basic and clinical aspects of congenital adrenal hyperplasia
New, M. I. (1987) · Journal of Steroid Biochemistry · doi:10.1016/0022-4731(87)90287-1 · Cited by 23
Self-citation
The resting metabolic rate in women with polycystic ovary syndrome and its relation to the hormonal milieu, insulin metabolism, and body fat distribution: a cohort study
Romualdi, D., Versace, V., Tagliaferri, V., De Cicco, S., Immediata, V., Apa, R., Guido, M., & Lanzone, A. (2019) · Journal of Endocrinological Investigation · doi:10.1007/s40618-019-01029-2 · Cited by 22
Physiology and Pathology of the Female Reproductive Axis
Bulun, S. E. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00017-4 · Cited by 22
Abnormalities of 21-Hydroxylase Gene Ratio and Adrenal Steroidogenesis in Hyperandrogenic Women with an Exaggerated 17-Hydroxyprogesterone Response to Acute Adrenal Stimulation*
Azziz, R., Wells, G., Zacur, H. A., & Acton, R. T. (1991) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-73-6-1327 · Cited by 21
Postpubertal outcome in girls diagnosed of premature pubarche during childhood: increased frequency of functional ovarian hyperandrogenism
Ibañez, L., Potau, N., Virdis, R., Zampolli, M., Terzi, C., Gussinyé, M., Carrascosa, A., & Vicens-Calvet, E. (1993) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.76.6.8501168 · Cited by 341
Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Yang, M., & White, P. C. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae535 · Cited by 20
Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature
Wong, F. C. K., Chan, A. Z., Wong, W. S., Kwan, A. H. W., Law, T. S. M., Chung, J. P. W., Kwok, J. S.-S., & Chan, A. O.-K. (2019) · Case Reports in Endocrinology · doi:10.1155/2019/9237459 · Cited by 20
Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., Zhao, Z., Li, X., Li, X., Ye, R., Ni, J., Zhou, P., Zhang, M., Cheng, R., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01021-x · Cited by 20
The Adrenal Cortex
Stewart, P. M., & Newell-Price, J. D. C. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00015-0 · Cited by 24
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone
Oriolo, C., Fanelli, F., Castelli, S., Mezzullo, M., Altieri, P., Corzani, F., Pelusi, C., Repaci, A., Dalmazi, G. D., Vicennati, V., et al. (2020) · Journal of Endocrinological Investigation · doi:10.1007/s40618-020-01235-3 · Cited by 20
Steroid Screening Tools Differentiating Nonclassical Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome
Maffazioli, G. D. N., Bachega, T. A. S. S., Hayashida, S. A. Y., Gomes, L. G., Valassi, H. P. L., Marcondes, J. A. M., Mendonca, B. B., Baracat, E. C., & Maciel, G. A. R. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa369 · Cited by 20
Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980–1996
Cartigny-Maciejewski, M., Guilley, N., Vanderbecken, S., Gondé, S., Stuckens, C., Ponté, C., Weill, J., & Farriaux, J. P. (1999) · Archives de Pédiatrie · doi:10.1016/s0929-693x(99)80202-4 · Cited by 20
Isolated Premature Pubarche: Ultrasonographic and Color Doppler Analysis--A Longitudinal Study
Battaglia, C., Regnani, G., Mancini, F., Iughetti, L., Bernasconi, S., Volpe, A., Flamigni, C., & Venturoli, S. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.87.7.3148 · Cited by 20
Fasting insulin sensitivity and post‐oral glucose hyperinsulinaemia related to cardiovascular risk factors in adolescents with precocious pubarche
Potau, N., Williams, R. M., Ong, K. K., Sánchez-Ufarte, C., de Zegher, F., Ibáñez, L., & Dunger, D. B. (2003) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2003.01919.x · Cited by 20
Diagnosis and management of classical congenital adrenal hyperplasia
Marumudi, E., Khadgawat, R., Surana, V., Shabir, I., Joseph, A. A., & Ammini, A. C. (2013) · Steroids · doi:10.1016/j.steroids.2013.04.007 · Cited by 20
Amplified and orderly growth hormone secretion characterizes lean adolescents with polycystic ovary syndrome
Garcia-Rudaz, M. C., Ropelato, M. G., Escobar, M., Veldhuis, J., & Barontini, M. (2002) · European Journal of Endocrinology · doi:10.1530/eje.0.1470207 · Cited by 20
The treatment of women with hirsutism
Jeffcoate, W. J. (1993) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1993.tb01766.x · Cited by 20
Naltrexone effect on pulsatile GnRH therapy for ovulation induction in polycystic ovary syndrome: A pilot prospective study
Fulghesu, A. M., Ciampelli, M., Belosi, C., Apa, R., Guido, M., Caruso, A., Mancuso, S., & Lanzoneal, A. (2001) · Journal of Endocrinological Investigation · doi:10.1007/bf03343880 · Cited by 19
Effects of Adrenal Steroids on the Bone Metabolism of Children with Congenital Adrenal Hyperplasia
Lin‐Su, K., & New, M. I. (2007) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1402.040 · Cited by 19
Self-citation
The modern management of hirsutism
Oláh, K. S. (2004) · Reviews in Gynaecological Practice · doi:10.1016/j.rigp.2004.05.001 · Cited by 19
Congenital Adrenal Hyperplasia
Vos, A. A., & Bruinse, H. W. (2010) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e3181d61046 · Cited by 18
Late‐onset congenital adrenal hyperplasia in women with hirsutism
Arnaout, M. A. (1992) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.1992.tb01425.x · Cited by 18
21-hydroxylase deficiency: From molecular genetics to clinical presentation
Trakakis, E., Laggas, D., Salamalekis, E., & Creatsas, G. C. (2005) · Journal of Endocrinological Investigation · doi:10.1007/bf03345366 · Cited by 19
The 21-Hydroxylase-Deficient Adrenal Hyperplasias: More Than ACTH Oversecretion
Azziz, R., & Slayden, S. (1996) · Journal of the Society for Gynecologic Investigation · doi:10.1016/s1071-5576(96)00044-5 · Cited by 18
Case 22-1988
Cabot, R. C., Scully, R. E., Mark, E. J., McNeely, W. F., McNeely, B. U., Dunaif, A. E., & Scully, R. E. (1988) · New England Journal of Medicine · doi:10.1056/nejm198806023182207 · Cited by 19
Hirsutism — Beyond the Steroidogenic Block
Ehrmann, D. A., & Rosenfield, R. L. (1990) · New England Journal of Medicine · doi:10.1056/nejm199009273231309 · Cited by 19
Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test
Dewailly, D., Vantyghem, M., LEMAIRE, C., Dufossé, F., Racadot, A., & Fossati, P. (1988) · Fertility and Sterility · doi:10.1016/s0015-0282(16)60064-x · Cited by 19
Heterozygotes for 17α-hydroxylase deficiency can be detected with a short ACTH test
WIT, J. M., VAN ROERMUND, H. P. C., OOSTDIJK, W., BENRAAD, T. H. J., THIJSSEN, J. H. H., BOER, P., JANSEN, M., SPIT, M., & VAN DEN BRANDE, J. L. (1988) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1988.tb03858.x · Cited by 18
Federal clinical practice guidelines on the management of the patients presenting with congenital adrenal hyperplasia
Kareva, M., & Чугунов, І. (2014) · Problems of Endocrinology · doi:10.14341/probl201460242-50 · Cited by 21
Defects of Adrenal Steroidogenesis
Yau, M., Khattab, A., Pina, C., Yuen, T., Meyer‐Bahlburg, H. F. L., & New, M. I. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00104-9 · Cited by 18
Self-citation
A contribution to the classification of cases of non-classic 21-hydroxylase-deficient congenital adrenal hyperplasia
Phocas, I., Chryssikopoulos, A., Sarandakou, A., Rizos, D., & Trakakis, E. (1995) · Gynecological Endocrinology · doi:10.3109/09513599509160451 · Cited by 18
Pituitary–ovarian response to the gonadotrophin‐releasing hormone‐agonist test in anovulatory patients with polycystic ovary syndrome: predictive role of ovarian stroma
Fulghesu, A. M., Angioni, S. L., Belosi, C., Apa, R., Selvaggi, L. E., Ciampelli, M., Iuculano, A., Melis, G. B., & Lanzone, A. (2006) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2006.02611.x · Cited by 18
Effect of opioid blockade on insulin and growth hormone (GH) secretion in patients with polycystic ovary syndrome: the heterogeneity of impaired GH secretion is related to both obesity and hyperinsulinism
Villa, P., Valle, D., Mancini, A., Marinis, L. D., Pavone, V., Fulghesu, A. M., Mancuso, S., & Lanzone, A. (1999) · Fertility and Sterility · doi:10.1016/s0015-0282(98)00405-1 · Cited by 18
Non-classic adrenal hyperplasia in hyperandrogenism: A reappraisal
Morán, C., Knochenhauer, E. S., & Azziz, R. (1998) · Journal of Endocrinological Investigation · doi:10.1007/bf03350803 · Cited by 17
Chronic anovulation and the polycystic ovary syndrome
KASE, N. G. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139003254.012 · Cited by 16
Reproductive Endocrinology and Related Disorders
Isbell, T. S., Jungheim, E. S., & Gronowski, A. M. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4160-6164-9.00056-1 · Cited by 17
Diagnosis and Treatment of Polycystic Ovary Syndrome in Adolescent Females
Ebersole, A. M., & Bonny, A. E. (2020) · Clinical Obstetrics & Gynecology · doi:10.1097/grf.0000000000000538 · Cited by 17
Evaluation of Hormonal Status
Carmina, E., & Løbo, R. A. (2009) · Elsevier eBooks · doi:10.1016/b978-1-4160-4907-4.00032-2 · Cited by 19
Dificuldades e armadilhas no diagnóstico da síndrome dos ovários policísticos
Marcondes, J. A. M., Barcellos, C. R. G., & Rocha, M. P. (2011) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302011000100002 · Cited by 17
The quantitative insulin sensitivity check index is not able to detect early metabolic alterations in young patients with polycystic ovarian syndrome
Angioni, S. L., Sanna, S., Magnini, R., Melis, G. B., & Fulghesu, A. M. (2010) · Gynecological Endocrinology · doi:10.3109/09513590.2010.492886 · Cited by 17
CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families
Sinnott, P. J., Livieri, C., Sampietro, M., Marconi, M., Harris, R., Severi, F., & Strachan, T. (1992) · Human Genetics · doi:10.1007/bf00219342 · Cited by 17
A Rare Duplicated 21-Hydroxylase Haplotype and ade NovoMutation: A Family Analysis
Baumgartner-Parzer, S. M., Nowotny, P., Waldhäusl, W., & Vierhapper, H. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021589 · Cited by 17
Splicing mutation in CYP21 associated with delayed presentation of salt‐wasting congenital adrenal hyperplasia
Kohn, B., Day, D. J., Alemzadeh, R., Enerio, D., Patel, S. V., Pelczar, J. V., & Speiser, P. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320570318 · Cited by 17
Self-citation
Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
Homoki, J., Sólyom, J., Wachter, U. A., & Teller, W. M. (1992) · European Journal of Pediatrics · doi:10.1007/bf02073884 · Cited by 17
The Natural History and Genotype-Phenotype Nonconcordance of HLA Identical Siblings with the Same Mutations of the 21-Hydroxylase Gene
Chemaitilly, W., Betensky, B. P., Marshall, I. H., Wei, J., Wilson, R. C., & New, M. I. (2005) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2005.18.2.143 · Cited by 17
Self-citation
Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children
Kashimada, K., Ishii, T., Nagasaki, K., Ono, M., Tajima, T., Yokota, I., & Hasegawa, Y. (2015) · Endocrine Journal · doi:10.1507/endocrj.ej14-0377 · Cited by 17
Changes in steroid pattern following acute and chronic adrenocorticotropin administration in premature adrenarche
Toscano, V., Balducci, R., Adamo, M. V., Mangiantini, A., Cives, C., & Boscherini, B. (1989) · Journal of Steroid Biochemistry · doi:10.1016/0022-4731(89)90271-9 · Cited by 16
Evidence of a disturbance of the hypothalamic-pituitary-adrenal axis in polycystic ovary syndrome: effect of naloxone
Lanzone, A., Guido, M., Ciampelli, M., Fulghesu, A. M., Pavone, V., Proto, C., Caruso, A., & Mancuso, S. (1996) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1996.tb02062.x · Cited by 16
The 5alpha-reductase type 1, but not type 2, gene is expressed in anagen hairs plucked from the vertex area of the scalp of hirsute women and normal individuals
Oliveira, I. O., Lhullier, C., Brum, I. S., & Spritzer, P. M. (2003) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2003001000024 · Cited by 17
Disorders of Gonadal Differentiation and Congenital Adrenal Hyperplasia
New, M. I., & Josso, N. (1988) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30424-9 · Cited by 16
Self-citation
Alternate pathway 17,20-lyase enzyme activity in the adrenals is enhanced in patients with polycystic ovary syndrome
Keleştimur, F., & Şahin, Y. (1999) · Fertility and Sterility · doi:10.1016/s0015-0282(99)00118-1 · Cited by 16
Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families
Sinnott, P. J., Costigan, C., Dyer, P. A., Harris, R., & Strachan, T. (1991) · Human Genetics · doi:10.1007/bf00200920 · Cited by 16
Ambiguous Genitalia And Disorders of Sexual Differentiation
Mehmood, K. T., & Rentea, R. M. (2020) · StatPearls · Cited by 15
Comprehensive genotyping of Turkish women with hirsutism
Polat, S., Karaburgu, S., Ünlühızarcı, K., Dündar, M., Özkul, Y., Arslan, Y. K., Karaca, Z., & Keleştimur, F. (2019) · Journal of Endocrinological Investigation · doi:10.1007/s40618-019-01028-3 · Cited by 16
A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype–phenotype nonconcordance
Khattab, A., Yuen, T., Al‐Malki, S., Yau, M., Kazmi, D., Sun, L., Harbison, M. D., Haider, S. M., Zaidi, M., & New, M. I. (2015) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12864 · Cited by 15
Self-citation
Participação dos androgênios adrenais na síndrome dos ovários policísticos
Gil-Junior, Â. B., Rezende, A. P. R., Carmo, A. V., Isaías, É. D., de Medeiros, M. M. W. Y., & de Medeiros, S. F. (2010) · Revista Brasileira Ginecologia e Obstetrícia · doi:10.1590/s0100-72032010001100005 · Cited by 15
Central Precocious Puberty in 48.XXYY Klinefelter Syndrome Variant
Bertelloni, S., Battini, R., Baroncelli, G. I., Guerrini, R., Viacava, P., Spinelli, C., & Simi, P. (1999) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.1999.12.3.459 · Cited by 15
Evaluation of Endocrine Function
Guber, H. A., & Farag, A. F. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0974-2.00024-5 · Cited by 15
Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche
Leite, M. V., Mendonca, B. B., Arnhold, I. J. P., Estefan, V., Nuñes, C. D. O., Nicolau, W., & BLOISE, W. (1991) · Journal of Endocrinological Investigation · doi:10.1007/bf03350247 · Cited by 15
Apparent activities of 21-hydroxylase, 17alpha-hydroxylase and 17,20-lyase are impaired in adrenal incidentalomas
Sadoul, J., Kézachian, B., Altare, S., Hadjali, Y., & Canivet, B. (1999) · European Journal of Endocrinology · doi:10.1530/eje.0.1410238 · Cited by 16
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Dörr, H.-G., Schulze, N., Bettendorf, M., Binder, G., Bonfig, W., Denzer, C., Dunstheimer, D., Salzgeber, K., Schmidt, H., Schwab, K. O., et al. (2020) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-020-00100-w · Cited by 14
Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia.
Einaudi, S., Napolitano, E., Restivo, F., Motta, G., Baldi, M., Tuli, G., Grosso, E., Migone, N., Menegatti, E., & Manieri, C. (2011) · PubMed · doi:10.3275/7410 · Cited by 14
Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: Consequence or coincidence?
Glass, A. R., Jackson, S. G., Perlstein, R. S., & Wray, H. L. (1994) · Journal of Endocrinological Investigation · doi:10.1007/bf03349683 · Cited by 14
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome
Atabek, M. E., Kurtoğlu, S., & Keskın, M. (2005) · The Turkish Journal of Pediatrics · doi:10.24953/turkjpediatr.2005.2709 · Cited by 14
The incidence of non-classical 21-hydroxylase deficiency in hirsute adolescent girls
Akinci, A., Yordam, N., Ersoy, F., Uluşahin, N., & Oğuz, H. (1992) · Gynecological Endocrinology · doi:10.3109/09513599209046392 · Cited by 14
Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia
Neocleous, V., Ioannou, Y. S., Bartsota, M., Costi, C., Skordis, N., & Phylactou, L. A. (2009) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2009.05.015 · Cited by 14
Molecular defects of the CYP21 gene in Spanish girls with isolated precocious pubarche
Potau, N., Riqué, S., Eduardo, I., Marcos, V., & Ibáñez, L. (2002) · European Journal of Endocrinology · doi:10.1530/eje.0.1470485 · Cited by 14
Variations in the 3′UTR of theCYP21A2Gene in Heterozygous Females with Hyperandrogenaemia
Neocleous, V., Fanis, P., Toumba, M., Phedonos, A., Picolos, M. K., Andreou, E., Kyriakides, T. C., Tanteles, G. A., Shammas, C., Phylactou, L. A., et al. (2017) · International Journal of Endocrinology · doi:10.1155/2017/8984365 · Cited by 14
21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children.
Bajpai, A., Kabra, M., & Menon, P. S. N. (2004) · PubMed · Cited by 14
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency
Witchel, S., Lee, P. A., & Trucco, M. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960102)61:1 · Cited by 14
Premature pubarche in girls is associated with functional adrenal but not ovarian hyperandrogenism
Mathew, R. P., Najjar, J. L., Lorenz, R. A., Mayes, D. E., & Russell, W. E. (2002) · The Journal of Pediatrics · doi:10.1067/mpd.2002.125492 · Cited by 14
Nonclassic Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Drucker, S., & New, M. I. (1987) · Pediatric Clinics of North America · doi:10.1016/s0031-3955(16)36303-9 · Cited by 14
Self-citation
Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Nokoff, N., Buchanan, C., & Barker, J. M. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae563 · Cited by 15
Anthropometric, Metabolic, and Endocrine Parameters as Predictors of Estimated Average Glucose and Other Biomarkers of Dysglycemia in Women with Different Phenotypes of Polycystic Ovary Syndrome
de Medeiros, S. F., de Medeiros, A. K. L. W. Y., de Medeiros, M. A. S., Carvalho, A. B. D. S., Yamamoto, M. M., Soares, J. M., & Baracat, E. C. (2023) · Hormone and Metabolic Research · doi:10.1055/a-2207-0739 · Cited by 14
Cortisol response to adrenocorticotropin testing in non-classical congenital adrenal hyperplasia (NCCAH)
Karachaliou, F.-E., Kafetzi, M. L., Dracopoulou, M., Vlachopapadopoulou, E. A., Leka, S., Fotinou, A., & Michalacos, S. (2016) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2016-0216 · Cited by 13
Routine screening for Cushing's syndrome is not required in patients presenting with hirsutism
Karaca, Z., Açmaz, B., Açmaz, G., Tanrıverdi, F., Unluhizarci, K., Aribaş, S., Sahin, Y., & Keleştimur, F. (2012) · European Journal of Endocrinology · doi:10.1530/eje-12-0938 · Cited by 13
Non-classical 21-hydroxylase deficiency: prevalence in males with unexplained abnormal sperm analysis
Pinkas, H., Fuchs, S., Aurbach-Klipper, Y., Zvulunov, A., Raanani, H., Sheffer-Mimouni, G., Fisch, B., & Weintrob, N. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.12.037 · Cited by 13
Metabolic and Endocrine Consequences of Acute Suppression of FFAs by Acipimox in Polycystic Ovary Syndrome
Ciampelli, M., Muzj, G., Leoni, F., Romualdi, D., Belosi, C., Cento, R. M., & Lanzone, A. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.11.8060 · Cited by 12
Suppression and recovery of gonadotropin and steroid secretion by a gonadotropin-releasing hormone receptor antagonist in healthy women with normal ovulation versus women with polycystic ovary syndrome in the early follicular phase
Sagnella, F., Apa, R., Guido, M., Villa, P., Spadoni, V., Miceli, F., & Lanzone, A. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.02.120 · Cited by 13
Revisitando o Hirsutismo
Spritzer, P. M. (2002) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302002000200003 · Cited by 10
High Testosterone Levels of Ovarian Origin Affect Adrenal Steroidogenesis?
Fruzzetti, F., Melis, G. B., Mais, V., Beconcini, D., Paoletti, A. M., Cristiani, G., Mian, E., & FIORETTI, P. (1991) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-72-2-426 · Cited by 13
Disorders of Growth and Development
Richmond, E. J., & Rogol, A. D. (2002) · Humana Press eBooks · doi:10.1007/978-1-59259-277-7_21 · Cited by 13
A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair
Agnani, H., Bachelot, G., Eguether, T., Ribault, B., Fiet, J., Bouc, Y. L., Netchine, I., Houang, M., & Lamazière, A. (2022) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2022.106085 · Cited by 12
Clinical Characteristics of Taiwanese Children With Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in the Pre-screening Era
Lee, C.-T., Tung, Y., Hsiao, P.-H., Lee, J.-S., & Tsai, W. (2010) · Journal of the Formosan Medical Association · doi:10.1016/s0929-6646(10)60035-6 · Cited by 13
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa
Ganie, Y., Aldous, C. R., Balakrishna, Y., & Wiersma, R. (2018) · South African Medical Journal · doi:10.7196/samj.2017.v108i2.12579 · Cited by 13
Effect of metformin on the growth hormone response to growth hormone–releasing hormone in obese women with polycystic ovary syndrome
Guido, M., Romualdi, D., Giuliani, M., Suriano, R., Tienforti, D., Costantini, B., & Lanzone, A. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.05.027 · Cited by 12
Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Cameron, F. J., Tebbutt, N. F., Montalto, J., YONG, A. B. W., Zacharin, M., Best, J. D., & Warne, G. L. (1996) · Archives of Disease in Childhood · doi:10.1136/adc.74.5.406 · Cited by 12
Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents
Homoki, J., Sólyom, J., & Teller, W. M. (1988) · European Journal of Pediatrics · doi:10.1007/bf00442691 · Cited by 12
Flutamide–metformin for post-menarcheal girls with preclinical ovarian androgen excess: evidence for differential response by androgen receptor genotype
Ong, K. K., de Zegher, F., López‐Bermejo, A., Dunger, D. B., & Ibáñez, L. (2007) · European Journal of Endocrinology · doi:10.1530/eje-07-0261 · Cited by 12
HIRSUTISM
Leung, A. K. C., & Robson, W. L. M. (1993) · International Journal of Dermatology · doi:10.1111/j.1365-4362.1993.tb02760.x · Cited by 12
Pitfalls of Prenatal Diagnosis of 21‐Hydroxylase Deficiency Congenital Adrenal Hyperplasiaa
Pang, S., Pollack, M. S., Loo, M., Green, O. C., Nussbaum, R. L., CLAYTON, G., Dupont, B., & New, M. I. (1985) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1985.tb14597.x · Cited by 12
Self-citation
Neonatal Screening for 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia--The Role of CYP21 Analysis
Root, A. W. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.5.5781 · Cited by 11
Hypothalamic-pituitary-adrenal axis sensitivity to opioids in women with polycystic ovary syndrome
Ciampelli, M., Guido, M., Cucinelli, F., Cinque, B., Barini, A., & Lanzone, A. (2000) · Fertility and Sterility · doi:10.1016/s0015-0282(99)00602-0 · Cited by 11
Basal 17‐hydroxyprogesterone cannot accurately predict nonclassical congenital adrenal hyperplasia in children and adolescents
Bello, R., Lebenthal, Y., Lazar, L., Shalitin, S., Tenenbaum, A., Phillip, M., & de Vries, L. (2016) · Acta Paediatrica · doi:10.1111/apa.13630 · Cited by 11
2 Anti-oestrogens: their clinical physiology and use in reproductive medicine
McKenna, K. M., & PEPPERELL, R. J. (1988) · Baillière s Clinical Obstetrics and Gynaecology · doi:10.1016/s0950-3552(88)80043-9 · Cited by 11

Authors: NEW, M. I., LORENZEN, F., LERNER, A. J., KOHN, B., OBERFIELD, S. E., POLLACK, M. S., DUPONT, B., STONER, E., LEVY, D. J., PANG, S., & LEVINE, L. S.
Affiliations: Memorial Sloan Kettering Cancer Center (US)
ORCID: LERNER, ALAN J.
KOHN, BRENDA
OBERFIELD, SHARON E.
DUPONT, BO
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 1983-08
Volume: 57
Issue: 2
Pages: 320-326
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jcem-57-2-320
OpenAlex: W2010208043
Cited by: 624
References: 33
Citations by year: 2026: 1 · 2025: 4 · 2024: 4 · 2023: 7 · 2022: 6 · 2021: 17 · 2020: 15 · 2019: 10 · 2018: 7 · 2017: 12 · 2016: 16 · 2015: 17 · 2014: 8 · 2013: 13 · 2012: 10
FWCI: 4.13
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
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, genotyping, ACTH stimulation test, 17-hydroxyprogesterone, Δ4-androstenedione, nomogram, heterozygotes, HLA typing, adrenal hormones
MeSH terms: Adrenal Hyperplasia, Congenital, Adrenocorticotropic Hormone, Androstenedione, Female, Genotype, HLA Antigens, Humans, Hydroxyprogesterones, Kinetics, Male, Steroid Hydroxylases, Steroid 21-Hydroxylase

About these checks

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.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Genotyping steroid 21-hydroxylase deficiency: hormonal reference data

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks