Cited by 200Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Forest, M. G.·2004·Human Reproduction Update

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Abstract

Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90% of CAH are caused by 21-hydroxylase deficiency (21-OHD), found in 1:10 000 to 1:15 000 live births. Females with 'classical' 21-OHD, being exposed to excess androgens prenatally, are born with virilized external genitalia. Potentially lethal adrenal insufficiency is characteristic of two-thirds to three-quarters of patients with the classical salt wasting (SW) form of 21-OHD. Non-SW 21-OHD may be diagnosed on genital ambiguity in affected females, and/or later on the occurrence of androgen excess in both sexes. Non-classical 21-OHD, detected in > or =1:100 of certain populations, may present as precocious pubarche in children or polycystic ovarian syndrome in young women. 21-OHD is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. More than 90% of these mutations result from intergenic recombination between CYP21 and the closely linked CYP21P pseudogene. The degree to which each mutation compromises enzymatic activity is strongly correlated with the clinical severity of the disorder. This close association between genotype and phenotype makes it possible to predict clinical outcome in affected subjects. The risk of SW and prenatal virilization can be estimated, and overtreatment can be avoided in mildly affected cases. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment, but additional therapies are being developed. A first trimester prenatal diagnosis should be proposed in families in whom molecular studies have been performed previously. The state of heterozygotism can be predicted by hormonal testing and confirmed by molecular studies. Prenatal diagnosis by direct mutation detection in previously genotyped families permits prenatal treatment of affected females in order to avoid or minimize genital virilization. Neonatal screening by hormonal methods identifies affected children before SW crises develop, reducing mortality in this disorder.

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
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[49]49. Guidollet-Tardy V (2002) Le de ´ficit en 21-hydroxylase Mise au point de l'exploration mole ´culaire de 1538 patients et 188 he ´te ´rozygotes; Corre ´- lations ge ´notype-phe ´notype. PhD Thesis, University Lyon I, 256pp.

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Composição e proporções corporais de meninas com a forma classica de deficiencia da 21-hidroxilase
Gonçalves, E. M. (2008) · doi:10.47749/t/unicamp.2008.419266
Best Practice & Research Clinical Endocrinology & Metabolism
der Grinten, H. L. C., Otten, B. J., Stikkelbroeck, M., Sweep, F. C. G. J., & Hermus, A. R. M. M. (2009)
Congenital Adrenal Hyperplasia, the Origin of Combined Infertility: A Case Report and a Review of Literature
Aslih, N. (2014) · Reproductive System & Sexual Disorders · doi:10.4172/2161-038x.1000142
“Diagnosis must be based on the increased levels of ACTHstimulated steroid precursor(s) that accumulate above the enzymatic block, with the exception of lipoid adrenal hyperplasia (P450scc deficiency) in which almost no steroids are produced [7].”
BackgroundInfluential
FUNCIÓN MEDULAR ADRENAL EN PACIENTES CON HIPERPLASIA SUPRARRENAL CONGÉNITA POR DÉFICIT DE 21-HIDROXILASA
Medicina, F. D. (2010)
LE DEFICIT CONGENITAL EN 21 HYDROXYLASE SUIVI CHEZ LA FEMME ADULTE
de Médecine, F. (2012)
The patient with endocrine disease
Laven, J. S. E. (2005) · CRC Press eBooks · doi:10.1201/b14473-7
Debates and Controversies in Genetic Steroid Disorders
Speiser, P. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00030-2
Assessment of inhibin B blood concentration in patients with congenital adrenal hyperplasia
Ziora, K. T., Borawska-Dziadek, E., Oświęcimska, J. M., Świętochowska, E., Ostrowska, Z., Kajdaniuk, D., Wikiera, B., Bieniasz, J., Noczyńska, A., Bursa, J., et al. (2016) · Pediatric Endocrinology · doi:10.18544/ep-01.15.03.1646
Diagnosis and Treatment of Congenital Adrenal Cortex Hyperplasia
胡, 啸. (2014) · Medical Diagnosis · doi:10.12677/md.2014.44009
Erkrankungen der endokrinen Drüsen inkl. Diabetes und Wachstumsstörungen
Hiort, O., Kapellen, T. M., Pfäffle, R. W., Raile, K., & Willgerodt, H. (2007) · Elsevier eBooks · doi:10.1016/b978-343723200-8.50021-4
CLINICAL MANIFESTATION OF LATE NEONATAL SEPSIS – CONTINU-OUS DIFFERENTIAL DIAGNOSTIC DILEMMA
Katavić, M., & Buljević, A. D. (2018) · Liječnički vjesnik · doi:10.26800/lv-141-5-6-21
Congenital adrenal hyperplasia: hospital based study
Alzubaidi, M. A. (2011) · Journal of the Faculty of Medicine Baghdad · doi:10.32007/jfacmedbagdad.532851
Hiperplasia congenita das supra-renais por deficiencia da 21-hidroxilase
dos Santos, C. T. M. (2007) · doi:10.47749/t/unicamp.2007.412236
Literaturverzeichnis
(2021) · Elsevier eBooks · doi:10.1016/b978-3-437-22851-3.50032-3
Mortality in Children with Classic Congenital Adrenal Hyperplasia and 21-Hydroxylase Deficiency (CAH) in Germany
Dörr, H. G., MWollmann, H. A., Hauffa, B. P., & Woelfle, J. (2020) · Vide Leaf, Hyderabad eBooks · doi:10.37247/paendo.1.2020.11
Amenorrea
Bourcigaux, N., & Christin‐Maître, S. (2007) · EMC - AKOS - Trattato di Medicina · doi:10.1016/s1634-7358(07)70394-7
Amenorreas
Bourcigaux, N., & Christin‐Maître, S. (2007) · EMC - Tratado de Medicina · doi:10.1016/s1636-5410(07)70638-4
Association of leptin with cardiometabolic factors in schoolchildren and adolescents with congenital adrenal hyperplasia
Zurita‐Cruz, J. N., Villasís-Keever, M. Á., Damasio‐Santana, L., Apolinar, L. M., Ferrusca-Ceja, R., Nishimura‐Meguro, E., Rivera-Hernández, A. D. J., & Garrido-Magaña, E. P. (2018) · Gaceta Médica de México · doi:10.24875/gmm.m18000131
Testicular adrenal rest tumor (TART) and ovarian adrenal rest tumor (OART) in patients with congenital adrenal hyperplasia
Oddział Pediatrii, S. W. R. Ś., Borawska-Dziadek, E., Ziora-Jakutowicz, K. N., & Warszawa, I. P. I. N. (2015) · Pediatric Endocrinology · doi:10.18544/ep-01.14.02.1558
The patient with endocrine disease
Laven, J. S. E. (2005) · CRC Press eBooks · doi:10.1201/b14473-4
Adrenal Glands - The Current Stage and New Perspectives of Diseases and Treatment
Păun, D. L., Cianci, P., & Restini, E. (2022) · IntechOpen eBooks · doi:10.5772/intechopen.102209 · Cited by 1
Tamizaje de Hiperplasia Adrenal Congénita en recién nacidos del Hospital General San Juan de Dios
Armas, K., & Lange, K. (2010) · Revista Científica · doi:10.54495/rev.cientifica.v19i2.158
Etiological, clinical and biochemical characteristics of 367 children with early pubertal development from the Trakya region of Turkey
Kılavuz, S., Bezen, D., Süt, N., Dilek, E., & Tütüncüler, F. (2022) · Çukurova medical journal (Online)/Çukurova medical journal · doi:10.17826/cumj.1176227
Nghiên cứu chẩn đoán di truyền trước làm tổ bệnh tăng sản thượng thận bẩm sinh thể thiếu enzyme 21-hydroxylase
Ly, N. H. H., Phong, N. V., Hà, N. T. V., & Tuấn, T. V. (2023) · Tạp chí Nghiên cứu Y học · doi:10.52852/tcncyh.v163i2.1208
Assessment of the Degree of Clinical Suspicion of 21-Hydroxylase Deficiency Prior to the Newborn Screening Result
Fernández, M. S., Sitja, M. M., González-Pinto, L. C., Arteta, E. L. H., & Sánchez, A. R. (2023) · Hormone and Metabolic Research · doi:10.1055/a-2111-6571 · Cited by 1
The history of prenatal diagnosis of congenital adrenal hyperplasia
New, M. I., & Lo, D. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00025-3
Ormoni steroidei surrenalici: androstenedione
D’Agostini, M., del GdS-EMM, A. N., & INCALZA, M. A. (2024) · La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine · doi:10.23736/s1825-859x.24.00258-5
Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam
Nguyen, K. N., Dang, G. T. K., Can, N. T. B., Điền, T. M., Bui, T. P., Phuong, M. N. T., Pham, H. T., Ngo, N. D., & Vu, D. C. (2025) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2448292.146
Effet de la modulation de l'équilibre calcique dans le cortex surrénalien
Fedlaoui, B. (2023) · theses.fr (ABES) · doi:10.70675/45da36b4z01fdz47d6za4b6z8663da88f35d
The role of Zearalenone in epigenetic modifications of candidate genes in Nellore heifers
Coelho, L. A. F., Barbero, R. P., Pereira, P. R. M. T., Polido, C. E. B., de Aguiar, A. C. S. R., Santos, H. A., de Mello, M. R. B., Kern, E. L., Andia, D. C., & Barbero, M. M. D. (2026) · Tropical Animal Health and Production · doi:10.1007/s11250-026-04978-y
“The CYP21A2 gene encodes cytochrome P450 21-hydroxylase, an enzyme involved in steroid hormone biosynthesis, particularly within glucocorticoid and miner-alocorticoid pathways (Forest 2004; Mizrachi et al. 2011).”
Urologic Emergencies in Children: Special Considerations
Chuang, K., & Khoury, A. (2026) · Springer eBooks · doi:10.1007/978-3-031-52619-0_10
Testicular adrenal rests tumours in congenital adrenal hyperplasia: unraveling prevalence, risk factors and new therapeutic horizons in adolescents
Tizianel, I., Bovo, G., Mazzeo, P., Ceccato, F., & Barbot, M. (2026) · Frontiers in Adolescent Medicine · doi:10.3389/fradm.2026.1919128
Assessment of Physical Growth in Children with Congenital Adrenal Hyperplasia (CAH)
Czapla, Z., Niedziela, M., & Cieślik, J. J. (2008) · Repozytorium Uniwersytetu im. Adama Mickiewicza (Adam Mickiewicz University in Poznań)
Polycystic Ovary Syndrome in the Peripubertal Period
Witchel, S. F. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-499-5_13

Authors: Forest, M. G.
Affiliations: Inserm (FR)
Corresponding author: Forest, M. G.
Venue: Human Reproduction Update
Publisher: Oxford University Press (OUP)
Published: 2004-09-23
Volume: 10
Issue: 6
Pages: 469-485
ISSN: 1355-4786 (ISSN-L)
1460-2369
DOI: 10.1093/humupd/dmh047
OpenAlex: W2135400812
Semantic Scholar: 1bdf692960096ceca79298e51fbe52efbd96ea29
Cited by: 200
References: 150
Citations by year: 2026: 4 · 2025: 1 · 2024: 2 · 2023: 10 · 2022: 8 · 2021: 5 · 2020: 6 · 2019: 3 · 2018: 7 · 2017: 4 · 2016: 10 · 2015: 9 · 2014: 14 · 2013: 14 · 2012: 16
FWCI: 0.58
Type: journal article
Language: en
Open access: closed
Locations: Human Reproduction Update (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, CYP21, intergenic recombination, genotype-phenotype correlation, salt wasting, adrenal insufficiency, precocious pubarche, polycystic ovary syndrome, glucocorticoid replacement therapy, mineralocorticoid replacement, prenatal diagnosis, newborn screening, overtreatment
MeSH terms: Adrenal Hyperplasia, Congenital, Body Height, Dose-Response Relationship, Drug, Female, Fertility, Genetic Counseling, Glucocorticoids, Heterozygote, Humans, Infant, Newborn, Mineralocorticoids, Mutation, Pregnancy, Prenatal Diagnosis, Steroid 21-Hydroxylase, Obstetric Surgical Procedures, Incidence, Neonatal Screening, Treatment Outcome

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Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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