Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and menstrual disorders caused by cytochrome P450 oxidoreductase (POR) mutations affecting electron transfer to all microsomal cytochr...

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Detalles Bibliográficos
Autores principales: Wang, Chunqing, Tian, Qinjie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453803/
https://www.ncbi.nlm.nih.gov/pubmed/37635957
http://dx.doi.org/10.3389/fendo.2023.1226387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453803/
https://www.ncbi.nlm.nih.gov/pubmed/37635957
http://dx.doi.org/10.3389/fendo.2023.1226387

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