Article
Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia.
The Journal of steroid biochemistry and molecular biology - 1 Feb 2021
Zhang Tingting, Ma Xiaoyu, Wang Junqi, Jia Caiwei, Wang Wei, Dong Zhiya, Ye Lei, Sun Shouyue, Hu Ronggui, Ning Guang, Li Chuanyin, Lu Wenli
Abstract excerpt
Congenital lipoid adrenal hyperplasia (LCAH), as the most severe form of congenital adrenal hyperplasia (CAH), is caused by mutations in the steroidogenic acute regulatory protein (STAR). Affected patients were typically characterized by adrenal insufficiency in the first year of life and present with female external genitalia regardless of karyotype. Non-classic LCAH patients usually present from 2 to 4 years...
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