SAT-010 Non-Classic POR Deficiency as a Cause of Menstrual Disorders & Infertility

P450 oxidoreductase deficiency (PORD) is an autosomal recessive disease caused by bi-allelic mutations of the POR gene. It is responsible for decreased activity of several P450 enzymes including CYP21A2, CYP17A1 and CYP19A1 that are involved in adrenal and/or gonadal steroidogenesis. PORD is typical...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Papadakis, Georgios E, Dumont, Agathe, Bouligand, Jerome, Chasseloup, Fanny, Raggi, Anna, Catteau-Jonard, Sophie, Boute-Benejean, Odile, Pitteloud, Nelly, Young, Jacques, Dewailly, Didier R
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Reproductive Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209003/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.898
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