肾上腺素
先天性肾上腺增生
痤疮
医学
单卵双胞胎
突变
内分泌学
儿科
遗传学
皮肤病科
基因
激素
生物
作者
Amanda S. H. Tan,Shi Yun Chia,Jiin Ying Lim,Daniel Chan
摘要
Abstract Acne vulgaris, a common dermatological condition that affects most adolescents and young adults, can indicate an underlying pathology if present prematurely in mid‐childhood. Premature acne can be caused by premature adrenarche secondary to non‐classical congenital adrenal hyperplasia (NC‐CAH), a condition arising from 21‐hydroxylase deficiency. This report describes a pair of monozygotic twin brothers with identical premature onset of acne, who were found to have an identical homozygous mutation in the promoter region of the CYP21A2 gene. While it is widely known that NCCAH is associated with genetic changes, the drive behind onset of adrenarche are widely unknown. As such, this report provokes thoughts on whether adrenarche could be influenced by adrenal genetic polymorphisms.
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