Congenital adrenal hyperplasia
Open Access
- 1 March 2009
- journal article
- Published by Taylor & Francis Ltd in Dermato-Endocrinology
- Vol. 1 (2), 87-91
- https://doi.org/10.4161/derm.1.2.7818
Abstract
Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed.Keywords
This publication has 56 references indexed in Scilit:
- Medical treatment of hirsutismDermatologic Therapy, 2008
- Hyperandrogenism and the skinJournal of the American Academy of Dermatology, 2004
- Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic womenHuman Genetics, 1997
- Spontaneous cortisol and growth hormone secretion interactions in patients with nonclassic 21-hydroxylase deficiency (NCCAH) and control childrenJournal of Clinical Endocrinology & Metabolism, 1996
- Molecular Genetic Analysis of Nonclassic Steroid 21-Hydroxylase Deficiency Associated with HLA-B14,DR1The New England Journal of Medicine, 1988
- Late-Onset Adrenal Hyperplasia in HirsutismThe New England Journal of Medicine, 1985
- Androgen Excess in Cystic AcneThe New England Journal of Medicine, 1983
- Late-Onset 21-Hydroxylase Deficiency Is an Allelic Variant of Congenital Adrenal Hyperplasia Characterized by Attenuated Clinical Expression and Different HLA Haplotype AssociationsHormone Research, 1982
- ADRENAL STEROIDOGENESIS IN HIRSUTE WOMENClinical Endocrinology, 1980
- Genetic Mapping of the 21-Hydroxylase-Deficiency Gene within the HLA Linkage GroupThe New England Journal of Medicine, 1978