46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya

Abstract

Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under‐virilization. A 19‐year‐old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea. Physical examination revealed Tanner stage 3 breast development, Tanner stage 4 pubic hair, normal external genitalia, and a gynoid body shape. Hormonal profile tests indicated hypergonadotropic hypogonadism with normal 17‐hydroxyprogesterone and testosterone levels. MRI revealed a hypoplastic uterus and absent ovaries. Karyotyping confirmed a 46, XY genotype, leading to the diagnosis of 46, XY complete gonadal dysgenesis (Swyer syndrome). Swyer syndrome is a rare disorder of sex development, characterized by unambiguous female genitalia, bilateral streak gonads, and elevated gonadotropin levels in individuals with a 46, XY karyotype. The condition results from abnormal gonadal development due to mutations in testis‐determining factors, most commonly the SRY gene. Patients typically present with primary amenorrhea and seldom have secondary sexual characteristics as this patient had. Management includes hormone replacement therapy and gonadectomy because of the increased risk of gonadal tumors. The patient was educated about her condition, initiated on combined contraceptive pills, and counseled on exploratory laparoscopic gonadectomy. This case highlights the importance of a comprehensive diagnostic approach in patients with primary amenorrhea, keeping in mind that patients with disorders of sex development may have developed secondary sexual characteristics.