Coexistence of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome: a rare clinical case.

Mayer-Rokitansky-Küster-Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and the upper two-thirds of the vagina, while gonadal dysgenesis is a primary ovarian defect in females. The coexistence of these two conditions is exceedingly rare. In this case report, we present a 15-year-old female who presented with primary amenorrhea and absent breast development. She exhibited no facial dysmorphism, and genital examination revealed normal female external genitalia. Laboratory tests were consistent with hypergonadotropic hypogonadism. Pelvic ultrasound revealed an atrophic uterus, with the ovaries not clearly visualized. Pelvic magnetic resonance imaging identified a rudimentary uterine cervix, vaginal hypoplasia with fibrotic band, and bilateral rudimentary adnexa. Karyotyping showed a normal 46,XX pattern. Exploratory laparoscopy with left oophorectomy was performed; histological examination of the ovary revealed stromal tissue with a cortex completely devoid of follicular components, consistent with a streak gonad. A diagnosis of 46,XX gonadal dysgenesis in association with Mayer-Rokitansky-Küster-Hauser syndrome was established. Pubertal induction was initiated at the age of 17, and the patient is currently maintained on hormone replacement therapy.