A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes

Here, we reported a case of a 16-year-old Chinese female patient (46, XX) diagnosed as 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) in June 2018 and over 3 years follow-up outcomes; 17-OHD is a rare form of congenital adrenal hyperplasia. The patient presented with primary amenorrhea, underdevel...

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Detalles Bibliográficos
Autores principales: Dai, Li-Zhen, Ma, Hong, Ke, Jian-Fang, Lin, Chen-Shi, Huang, Yanling, Tian, Yuan, Chen, Danling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502244/
https://www.ncbi.nlm.nih.gov/pubmed/36129002
http://dx.doi.org/10.1177/17455057221122597

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502244/
https://www.ncbi.nlm.nih.gov/pubmed/36129002
http://dx.doi.org/10.1177/17455057221122597

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