Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic fe...

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Detalles Bibliográficos
Autores principales: Lee, Hae In, Kwon, Ahreum, Suh, Jung Hwan, Choi, Han Saem, Song, Kyung Chul, Chae, Hyun Wook, Kim, Ho-Seong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026339/
https://www.ncbi.nlm.nih.gov/pubmed/33819959
http://dx.doi.org/10.6065/apem.2040184.092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026339/
https://www.ncbi.nlm.nih.gov/pubmed/33819959
http://dx.doi.org/10.6065/apem.2040184.092

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