article_metadata: Qian Liao Rufei Shen Mingyu Liao Chenxi Ran Ling Zhou Yuling Zhang Guiliang Peng Zheng Sun Hongting Zheng Min Long
article_metadata: 10.3389/fendo.2022.989447
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2022 Oct 19;13:989447.
article_metadata: 17α-hydroxylase/17,20-lyase deficiency 46,xy disorder of sex development congenital adrenal hyperplasia (cah) inguinal hernia pr96q mutation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36339422/
article_metadata: Adrenal Hyperplasia, Congenital / complications Adrenal Hyperplasia, Congenital / diagnosis Adrenal Hyperplasia, Congenital / genetics Metabolic Diseases / complications
article_metadata: 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
article_metadata: PMC9627194
article_metadata: 36339422
article_metadata: 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
article_metadata: 2022