The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series

CONTEXT: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency. OBJECTIVE: To examine the phenotypic spectrum of 17OHD...

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Detalles Bibliográficos
Autores principales: Sun, Min, Mueller, Jonathan W, Gilligan, Lorna C, Taylor, Angela E, Shaheen, Fozia, Noczyńska, Anna, T’Sjoen, Guy, Denvir, Louise, Shenoy, Savitha, Fulton, Piers, Cheetham, Timothy D, Gleeson, Helena, Rahman, Mushtaqur, Krone, Nils P, Taylor, Norman F, Shackleton, Cedric H L, Arlt, Wiebke, Idkowiak, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558848/
https://www.ncbi.nlm.nih.gov/pubmed/34524979
http://dx.doi.org/10.1530/EJE-21-0152

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558848/
https://www.ncbi.nlm.nih.gov/pubmed/34524979
http://dx.doi.org/10.1530/EJE-21-0152

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