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Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants

3beta-hydroxysteroid dehydrogenase type II deficiency (HSD3B2 deficiency), a rare form of congenital adrenal hyperplasia (CAH), is characterized by varying degrees of salt loss and incomplete masculinization in males and mild virilization or normal external genitalia in females. We report the case o...

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Detalles Bibliográficos
Autores principales:	Menegatti, Elisa, Tessaris, Daniele, Barinotti, Alice, Matarazzo, Patrizia, Einaudi, Silvia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9573289/ https://www.ncbi.nlm.nih.gov/pubmed/36233635 http://dx.doi.org/10.3390/jcm11195767

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