Li-Zhen Dai Hong Ma Jian-Fang Ke Chen-Shi Lin Yanling Huang Yuan Tian Danling Chen
10.1177/17455057221122597
Womens Health (Lond)
2022 Jan-Dec;18:17455057221122597.
17α-hydroxylase/17 20-lyase deficiency cyp17a1 gene mutation congenital adrenal hyperplasia follow-up primary amenorrhea
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/36129002/
Lyases / genetics Steroid 17-alpha-Hydroxylase / genetics Steroid 17-alpha-Hydroxylase / metabolism
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
PMC9502244
36129002
A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes
2022