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Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report

BACKGROUND: 17α-Hydroxylase deficiency is a recessively inherited autosomal disease caused by mutations in the CYP17A1 gene. It is a rare disease and accounts for approximately 1% of congenital adrenal cortex hyperplasias. Inhibition of 17α-hydroxylase causes low levels of cortisol and high levels o...

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Detalles Bibliográficos
Autores principales: Mikami, Yukiko, Takai, Yasushi, Obata-Yasuoka, Mana, Kumagai, Ryo, Yagyu, Hiroaki, Shigematsu, Kosuke, Huang, Haipeng, Uemura, Nozomi, Shinsaka, Mamiko, Saitoh, Masahiro, Baba, Kazunori, Seki, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664496/
https://www.ncbi.nlm.nih.gov/pubmed/31358067
http://dx.doi.org/10.1186/s13256-019-2166-9