Cargando…
ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
BACKGROUND: The NR5A1 gene encodes steroidogenic factor-1 (SF1), a key transcription factor involved in adrenal and gonadal development. We present a 12-year old boy with a novel, dominant, heterozygous, and probably pathogenic variant of this gene (c.102+1G>C) resulting in incomplete masculiniza...
Autores principales: | Yu, Yunting, Huerta-Saenz, Lina, Bangalore-Krishna, Kanthi, Lee, Peter |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625422/ http://dx.doi.org/10.1210/jendso/bvac150.1262 |
Ejemplares similares
-
A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development
por: Yu, Yunting, et al.
Publicado: (2023) -
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency
por: Shima, Hirohito, et al.
Publicado: (2018) -
Abstract 82: Rare case of 46XY OVO testicular DSD
por: Naushad, Altaf Ali, et al.
Publicado: (2022) -
ODP381 Changes in Perceptions of Pediatric Endocrinologists (PE) and Urologists (PU) to Infants and Children regarding care of individuals with 46,XY DSD
por: Lee, Peter, et al.
Publicado: (2022) -
Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
por: Yu, Bingqing, et al.
Publicado: (2021)