So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

Abstract Background The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hyd...

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Bibliographic Details
Main Authors: Reinaldo Luna de Omena Filho, Reginaldo José Petroli, Fernanda Caroline Soardi, Débora de Paula Michelatto, Taís Nitsch Mazzola, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Susane Vasconcelos Zanotti, Ida Cristina Gubert, Isabella Monlleo
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Italian Journal of Pediatrics
Subjects:
Rare disease
Ambiguous genitalia
HSD17B3 deficiency
Novel variant
Case report
Online Access:https://doi.org/10.1186/s13052-022-01284-9

Internet

https://doi.org/10.1186/s13052-022-01284-9

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