The laparoscopic management of Swyer syndrome: Case series

Swyer syndrome, also known as 46 XY pure gonadal dysgenesis, is a rare endocrine disorder. Affected individuals are phenotypically female with female genitalia, normal Mullerian structures, absent testicular tissue, and a 46 XY chromosomal constitution. We report a series of eight cases of Swyer syndrome, of which six were managed by laparoscopic gonadectomy. The two other cases had to undergo an exploratory laparotomy in view of their presentation with adnexal masses. Two of the girls were siblings. The chief presenting complaint was primary amenorrhea. Four girls also presented with a history of poor development of secondary sexual characters. The average age at presentation was 16.19±2.85 years. The average height was 158.33 ±4.63 cm, and the average weight was 49.33±8.44 kg. Breast development was either Tanner 2 or 3 in four girls, whereas three girls had a Tanner 1 underdeveloped breasts. Axillary and pelvic hair was sparse in all the girls. The vagina was well canalized in all the girls. Hormonal evaluation revealed hypergonadotropic hypogonadism with a mean follicle-stimulating hormone (FSH) level of 95.81 mIU/L and a mean luteinizing (LH) level of 24.15 mIU/L. Imaging analysis revealed the presence of a small uterus in all the cases, except one. Bilateral ovaries were either not visualized or streak gonads were present. Adnexal mass was detected in two of the six cases with raised carcinoembryonic antigen (CA) 125 levels in one case. Genetic analysis revealed a karyotype of 46 XY in six girls, 46 XY/45 X in one, and the culture repeatedly failed in one girl. Because of the risk of malignancy, bilateral gonadectomy was performed in all cases. Histopathological analysis revealed that three of the six cases had dysgerminoma. The patients have been started on hormone replacement therapy. Laparoscopy is a minimally invasive modality for the definitive diagnosis and treatment of cases with Swyer syndrome. An early diagnosis of Swyer syndrome is possible during workup for primary amenorrhea before they present with adnexal masses.