A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY

Disorders of sex development (DSD) with mild external genital abnormalities may be diagnosed after puberty. Here, we report a case of 46,XY complete gonadal dysgenesis with a novel missense variant in sex-determining region Y (SRY), diagnosed after primary amenorrhea. A 15-yr-old patient presented t...

Descripción completa

Detalles Bibliográficos
Autores principales: Narita, Chisato, Takubo, Noriyuki, Sammori, Manami, Matsumura, Yuko, Shimura, Kazuhiro, Ozaki, Rie, Haruna, Hidenori, Narumi, Satoshi, Ishii, Tomohiro, Hasegawa, Tomonobu, Shimizu, Toshiaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568573/
https://www.ncbi.nlm.nih.gov/pubmed/37842143
http://dx.doi.org/10.1297/cpe.2023-0032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568573/
https://www.ncbi.nlm.nih.gov/pubmed/37842143
http://dx.doi.org/10.1297/cpe.2023-0032

Ejemplares similares