A 14-year-old girl with primary amenorrhea and 46, XY karyotype: a case of Swyer syndrome

Abstract

Swyer syndrome (46, XY pure gonadal dysgenesis) is an uncommon condition within the spectrum of disorders of sex development. Individuals are phenotypically female but possess nonfunctional streak gonads and typically fail to undergo spontaneous pubertal maturation. The condition often presents with primary amenorrhea and carries a notable risk of gonadal neoplasia. A 14-year-old girl presented with absence of menarche and poorly developed secondary sexual characteristics. Clinical assessment combined with endocrine evaluation demonstrated elevated gonadotropins consistent with primary gonadal failure. Cytogenetic analysis confirmed a 46, XY karyotype. Pelvic imaging identified a small uterus along with bilateral streak-like gonads. These findings were confirmed through diagnostic laparoscopy. Considering the established malignancy risk associated with dysgenetic gonads, bilateral gonadectomy was undertaken. Histological examination confirmed fibrous gonadal tissue lacking germ cells, supporting the diagnosis of gonadal dysgenesis. Following surgery, the patient was initiated on estrogen therapy, which led to progressive development of secondary sexual characteristics and pubertal development during follow up. This case highlights the importance of considering Swyer syndrome in adolescents with primary amenorrhea and delayed puberty. Early recognition, timely surgical management and appropriate hormonal therapy are essential to reduce long-term complications and support normal physical development. Coordinated multidisciplinary care plays a key role in achieving favourable outcomes.