Congenital adrenal hyperplasia pathophysiology
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Congenital adrenal hyperplasia main page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Pathophysiology
Congenital adrenal hyperplasia subtypes are all autosomal recessive and monogenetic. The disease manifestation follows the allele that results in a more functional enzyme, and generally correlation between genotype and phenotype is good.[1][2]
Adrenal steroidogenesis occurs by a series of steps facilitated by adrenal zone-specific enzyme expression, and in different types of congenital adrenal hyperplasia this process is interrupted at distinct points. In addition to the classic well established steroidogenesis pathway, an alternative pathway to active androgen biosynthesis exists (termed the backdoor pathway),30 ; 31 which might play a role in the pathophysiology of congenital adrenal hyperplasia (figure 2). The clinical manifestation of congenital adrenal hyperplasia is closely related to the type and severity of impairment.
References
- ↑ Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP (2011). "Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 96 (1): E161–72. doi:10.1210/jc.2010-0319. PMC 3038490. PMID 20926536.
- ↑ New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T (2013). "Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency". Proc. Natl. Acad. Sci. U.S.A. 110 (7): 2611–6. doi:10.1073/pnas.1300057110. PMC 3574953. PMID 23359698.