article_metadata: Li-Zhen Dai Hong Ma Jian-Fang Ke Chen-Shi Lin Yanling Huang Yuan Tian Danling Chen
article_metadata: 10.1177/17455057221122597
article_metadata: Womens Health (Lond)
article_metadata: 2022 Jan-Dec;18:17455057221122597.
article_metadata: 17α-hydroxylase/17 20-lyase deficiency cyp17a1 gene mutation congenital adrenal hyperplasia follow-up primary amenorrhea
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36129002/
article_metadata: Lyases / genetics Steroid 17-alpha-Hydroxylase / genetics Steroid 17-alpha-Hydroxylase / metabolism
article_metadata: Lyases / genetics Steroid 17-alpha-Hydroxylase / genetics Steroid 17-alpha-Hydroxylase / metabolism Case Reports Adolescent Adrenocorticotropic Hormone / genetics Androgens Aspartic Acid / genetics Estrogens Female Follow-Up Studies Homozygote Humans Hydrocortisone Mixed Function Oxygenases / genetics Phenylalanine / genetics Progesterone Sequence Deletion Serine / genetics Androgens Estrogens Aspartic Acid Serine Phenylalanine Progesterone Adrenocorticotropic Hormone Mixed Function Oxygenases Steroid 17-alpha-Hydroxylase Lyases Hydrocortisone
article_metadata: PMC9502244
article_metadata: 36129002
article_metadata: A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes
article_metadata: 2022