The DOI matches its Crossref record; 147 of the 150 references it cites were found in a registry or an index.
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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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“However, 17-hydroxypregnenolone also accumulates and is readily converted to DHEA, and subsequently to androstenedione and testosterone, resulting in severe prenatal virilization of female fetuses (350 -354).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [354]
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“21-Hydroxylase deficiency, caused by mutations in P450c21, is the most common form of CAH and one of the most common inborn errors of metabolism.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [354]
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Citations
Cites
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
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Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
White, P. C. (2000) · Endocrine Reviews · doi:10.1210/er.21.3.245 · Cited by 877
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data
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Masculinized Finger Length Patterns in Human Males and Females with Congenital Adrenal Hyperplasia
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Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
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Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.
Merke, D. P., Chrousos, G. P., Eisenhofer, G., Weise, M., Keil, M. F., Rogol, A. D., Van Wyk, J. J., & Bornstein, S. R. (2000) · New England Journal of Medicine · doi:10.1056/nejm200011093431903 · Cited by 266
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Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency
David, M., & Forest, M. G. (1984) · The Journal of Pediatrics · doi:10.1016/s0022-3476(84)80310-8 · Cited by 253
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Research works printed but not linked: 1
- [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.
Cited by
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
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., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,468
“ported birth weights in the normal range (56, 57, 71, 72)”
Minireview: Regulation of Steroidogenesis by Electron Transfer
Miller, W. L. (2005) · Endocrinology · doi:10.1210/en.2005-0096 · Cited by 324
Speiser, P., Arlt, W., Rj, A., Baskin, L., Conway, G. S., Merke, D. P., Meyer‐Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S., et al. (2019) · Yearbook of pediatric endocrinology · doi:10.1530/ey.16.8.5 · Cited by 301
Elevated rates of testosterone-related disorders in women with autism spectrum conditions
Ingudomnukul, E., Baron‐Cohen, S., Wheelwright, S. J., & Knickmeyer, R. C. (2007) · Hormones and Behavior · doi:10.1016/j.yhbeh.2007.02.001 · Cited by 280
“1% 1:15,000 births, or up to 1:100 for non-classical forms in certain populations (Forest, 2004) A8.”
BackgroundInfluential
Metadata
- 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
- 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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