Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature

BACKGROUND: P450 oxidoreductase (POR) deficiency (PORD) is characterized by congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD) in both sexes. PORD can also associate with skeletal defects. However, the prevalence of these phenotypes is unknown. AIM: To evaluate the prevalenc...

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Detalles Bibliográficos
Autores principales: Gusmano, C., Cannarella, R., Crafa, A., Barbagallo, F., La Vignera, S., Condorelli, R. A., Calogero, A. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829634/
https://www.ncbi.nlm.nih.gov/pubmed/35842891
http://dx.doi.org/10.1007/s40618-022-01849-9

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