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Case report: Rare heterozygous variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus.
Sasaki, Toru; Suzuki, Shinji; Ono, Masanori; Yamamoto, Akiko; Bingo, Masato; Yamanaka, Gaku; Kuroda, Masahiko; Inagaki, Natsuko; Nishi, Hirotaka.
Afiliación
  • Sasaki T; Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan.
  • Suzuki S; Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.
  • Ono M; Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan.
  • Yamamoto A; Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan.
  • Bingo M; Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan.
  • Yamanaka G; Department of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan.
  • Kuroda M; Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.
  • Inagaki N; Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan.
  • Nishi H; Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan.
Front Med (Lausanne) ; 11: 1441990, 2024.
Article en En | MEDLINE | ID: mdl-39149602
ABSTRACT
The nuclear receptor subfamily 5 group A member 1 (NR5A1) gene encodes NR5A1, also known as steroidogenic factor 1, a crucial transcriptional factor regulating adrenal and gonadal development and function. Although pathogenic variants in NR5A1 are known to cause a spectrum of disorders of sex development (DSD), individuals with 46,XY DSD with fully female internal and external genitalia are relatively rare. Herein, we present the case of a patient with 46,XY complete gonadal dysgenesis (CGD) who had a non-communicating rudimentary uterus due to a c.132_134del (p.Asn44del) heterozygous in-frame-deletion in NR5A1 that was diagnosed while treating a pelvic mass in which gynecological malignancy could not be disregarded. Unlike two previous cases with the p.Asn44del variant, this case presented with CGD, a severe DSD phenotype, and we found that the oligogenic inheritance of DSD-causative genes such as SRY, DHX37, SLC26A8, and CFTR may have affected the severity of the clinical phenotype.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Med (Lausanne) Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Med (Lausanne) Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Suiza