Case Report: Rare Heterozygous Variant in the Gene Causing 46,XY Complete Gonadal Dysgenesis with a Non-communicating Rudimentary Uterus

Overview

Journal Front Med (Lausanne)

Specialty General Medicine

Date 2024 Aug 16

PMID 39149602

Authors

Toru Sasaki

Shinji Suzuki

Masanori Ono

Akiko Yamamoto

Masato Bingo

Gaku Yamanaka

Masahiko Kuroda

Natsuko Inagaki

Hirotaka Nishi

Affiliations

Soon will be listed here.

Abstract

The nuclear receptor subfamily 5 group A member 1 () gene encodes NR5A1, also known as steroidogenic factor 1, a crucial transcriptional factor regulating adrenal and gonadal development and function. Although pathogenic variants in 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 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 , , , and may have affected the severity of the clinical phenotype.

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