Sasaki Toru, Suzuki Shinji, Ono Masanori, Yamamoto Akiko, Bingo Masato, Yamanaka Gaku, Kuroda Masahiko, Inagaki Natsuko, Nishi Hirotaka
Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan.
Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.
Front Med (Lausanne). 2024 Aug 1;11:1441990. doi: 10.3389/fmed.2024.1441990. eCollection 2024.
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.
核受体亚家族5 A组成员1（）基因编码NR5A1，也称为类固醇生成因子1，是一种调节肾上腺和性腺发育及功能的关键转录因子。虽然已知该基因的致病变异会导致一系列性发育障碍（DSD），但具有46,XY DSD且内外生殖器完全为女性的个体相对罕见。在此，我们报告一例46,XY完全性性腺发育不全（CGD）患者，该患者因该基因c.132_134del（p.Asn44del）杂合框内缺失而有一个不通的残角子宫，该缺失是在治疗一个不能忽视妇科恶性肿瘤的盆腔肿块时被诊断出来的。与之前两例携带p.Asn44del变异的病例不同，该病例表现为CGD，这是一种严重的DSD表型，并且我们发现诸如、、和等DSD致病基因的寡基因遗传可能影响了临床表型的严重程度。
