SAT-227 Long-Term Outcomes of Two Siblings with X-Linked Congenital Adrenal Hypoplasia Due to a Mutation in NR0B1 (DAX1) Gene: Reproductive and Neuropsychiatric Aspects

Background: X-linked congenital adrenal hypoplasia (CAH) is a rare disease caused by mutations in the NR0B1 (DAX-1) gene. Non-classical manifestations have been described, including late-onset adrenal insufficiency (AI) and gonadotropin-independent precocious puberty (GIPP). We report long-term endo...

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Detalles Bibliográficos
Autores principales: Pereira, Hugo Valente do Couto, Seraphim, Carlos Eduardo, Domenice, Sorahia, Feitosa, Klevia Nunes, Tinano, Flávia Rezende, de Faria, Aline Guimarães, Freitas, Thais Castanheira, Nishi, Mirian Yumie, Canton, Ana Pinheiro Machado, Brito, Vinicius Nahime, Latronico, Ana Claudia, Mendonca, Berenice Bilharinho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207802/
http://dx.doi.org/10.1210/jendso/bvaa046.1359

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