Case report: 17α− hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients

17α-Hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. It is characterized by impaired adrenal and gonad steroid biosynthesis. Affected patients present with hypertension, hypokalemia, and disorders of sexual development. Here, we...

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Detalles Bibliográficos
Autores principales: Li, Jinying, Zhang, Qiang, Chen, Jing, Fu, Xingjiao, Yang, Jingpin, Liu, Lijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9532611/
https://www.ncbi.nlm.nih.gov/pubmed/36210947
http://dx.doi.org/10.3389/fped.2022.935191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9532611/
https://www.ncbi.nlm.nih.gov/pubmed/36210947
http://dx.doi.org/10.3389/fped.2022.935191

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