Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant

Mutations in the nuclear receptor subfamily 5 group A member 1 (NR5A1) are the underlying cause of 10–20% of 46,XY disorders of sex development (DSDs). We describe a young girl with 46,XY DSD due to a unique novel mutation of the NR5A1 gene. An 11-year-old subject, raised as a female, was noticed to...

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Detalles Bibliográficos
Autores principales: Alhamoudi, Kheloud M., Alghamdi, Balgees, Aljomaiah, Abeer, Alswailem, Meshael, Al-Hindi, Hindi, Alzahrani, Ali S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294228/
https://www.ncbi.nlm.nih.gov/pubmed/35865014
http://dx.doi.org/10.3389/fgene.2022.885589

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294228/
https://www.ncbi.nlm.nih.gov/pubmed/35865014
http://dx.doi.org/10.3389/fgene.2022.885589

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