LBODP087 Unusual Presentation Of Salt-wasting 3-beta-hydroxysteroid Dehydrogenase-2 Deficiency

BACKGROUND: Biallelic pathogenic variants of HSD3B2 cause 3-beta-hydroxysteroid dehydrogenase-2 (3BHSD2) deficiency. 3BHSD2 is a rare cause of congenital adrenal hyperplasia (CAH) with two presentations in infancy including salt-wasting and a non-salt wasting with variable virilization of females an...

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Detalles Bibliográficos
Autores principales: Vidal, Katherine, George, Anu Skaria, Morand, Megan, Cooney, Erin, Lee, Phillip D K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625122/
http://dx.doi.org/10.1210/jendso/bvac150.1235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625122/
http://dx.doi.org/10.1210/jendso/bvac150.1235

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