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Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia wh...

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Autors principals: Ayman A Bakkar, Abdulaziz Alsaedi, Naglaa M Kamal, Enad Althobaiti, Lujain A Aboulkhair, Abdullah M Almalki, Shaima A Alsalmi, Qaydah Alharthi, Sara A Abosabie, Salma AS Abosabie
Format: Artigo
Idioma:Inglês
Publicat: SAGE Publishing 2023-05-01
Col·lecció:Clinical Medicine Insights: Endocrinology and Diabetes
Accés en línia:https://doi.org/10.1177/11795514231167059
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