Chisato Narita, Noriyuki Takubo, Manami Sammori, Yuko Matsumura, Kazuhiro Shimura, Rie Ozaki, Hidenori Haruna, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa, Toshiaki Shimizu
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 to our gynecology department with a chief complaint of amenorrhea. The patient was diagnosed with a 46,XY karyotype, and SRY gene positivity. Gonadotropin levels were high, whereas testosterone levels were low. A pelvic magnetic resonance imaging (MRI) revealed a hypoplastic uterus; however, no gonads could be identified...
2023: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology