Qian Liao Rufei Shen Mingyu Liao Chenxi Ran Ling Zhou Yuling Zhang Guiliang Peng Zheng Sun Hongting Zheng Min Long
10.3389/fendo.2022.989447
Front Endocrinol (Lausanne)
2022 Oct 19;13:989447.
17α-hydroxylase/17,20-lyase deficiency 46,xy disorder of sex development congenital adrenal hyperplasia (cah) inguinal hernia pr96q mutation
CC BY
https://pubmed.ncbi.nlm.nih.gov/36339422/
Adrenal Hyperplasia, Congenital / complications Adrenal Hyperplasia, Congenital / diagnosis Adrenal Hyperplasia, Congenital / genetics Metabolic Diseases / complications
Adrenal Hyperplasia, Congenital / complications Adrenal Hyperplasia, Congenital / diagnosis Adrenal Hyperplasia, Congenital / genetics Metabolic Diseases / complications Review Case Reports Research Support, Non-U.S. Gov't Adult Female Homozygote Humans Male Mixed Function Oxygenases / genetics Mutation Steroid 17-alpha-Hydroxylase / genetics Young Adult Steroid 17-alpha-Hydroxylase Mixed Function Oxygenases
PMC9627194
36339422
An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature
2022