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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...

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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

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