Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

Background/Objective: Nonclassic congenital adrenal hyperplasia (NCCAH) may be overlooked or mistaken for polycystic ovarian syndrome. Unlike congenital adrenal hyperplasia (CAH), the enzymatic activities of 21-hydroxylase or 11β-hydroxylase in NCCAH are not completely lost. In this case, NCCAH pres...

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Bibliographic Details
Main Authors: Eric D. Frontera, DO, Joshua J. Brown, BS, Hagop Ghareebian, MBCHB, Cary Mariash, MD
Format: Article
Language:English
Published: Elsevier 2022-11-01
Series:AACE Clinical Case Reports
Subjects:
nonclassic
congenital
adrenal
hyperplasia
mutations
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060522000670

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http://www.sciencedirect.com/science/article/pii/S2376060522000670

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