Swyer syndrome in a Syrian female: A rare case report.

Abstract

Swyer syndrome, a form of complete gonadal dysgenesis, is a rare genetic condition in which phenotypic females exhibit a 46,XY karyotype. A 15-year-old girl presented with underdeveloped secondary sexual characteristics and amenorrhea. Laboratory investigations revealed elevated follicle-stimulating hormone levels and low estradiol levels, while imaging identified a small uterus and gonads. Chromosomal analysis confirmed a 46,XY karyotype. The patient was treated with hormone replacement therapy, resulting in significant pubertal development, reaching Tanner stage 3 within 8 months. This case highlights the importance of early recognition, chromosomal analysis, and tailored management in Swyer syndrome. Multidisciplinary approaches based on hormonal therapy, fertility counseling, and psychological support are crucial to improving patient outcomes. As the first case report of Swyer syndrome in Syria, this study underscores the need for heightened clinical awareness of this rare condition and widens the differential diagnosis for primary amenorrhea.