46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

CONTEXT: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway. CASE DESCRIPTION: A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and...

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Detalles Bibliográficos
Autores principales: Papi, Giampaolo, Paragliola, Rosa Maria, Concolino, Paola, Di Donato, Carlo, Pontecorvi, Alfredo, Corsello, Salvatore Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941809/
https://www.ncbi.nlm.nih.gov/pubmed/29854486
http://dx.doi.org/10.1155/2018/2086861

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941809/
https://www.ncbi.nlm.nih.gov/pubmed/29854486
http://dx.doi.org/10.1155/2018/2086861

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