Unravelling the Mystery of Swyer Syndrome- When XY meets XX
Swyer syndrome-Case report
Abstract
Abstract-Swyer syndrome, or 46 XY complete gonadal dysgenesis, is a rare disorder of sexual development where individuals with a male karyotype present with a female phenotype. This case report describes a 16-year-old female with primary amenorrhea and normal secondary sexual characteristics, later diagnosed with Swyer syndrome following hormonal, imaging, and genetic evaluation. She underwent prophylactic gonadectomy due to risk of gonadoblastoma, which was confirmed histologically. Management included hormonal replacement therapy and multidisciplinary follow up. This case highlights the impotance of early diagnosis, surgical intervention, and long-term support to mitigate malignancy risk and promote optimal physical and psychosocial outcomes.
Downloads
References
2. Sinclair AH, Berta P, Palmer MS, et al. (1990). A gene from the human Y chromosome causes male sexual development. Nature. 1990;346(6281): 240–244.
3. Lee PA, Houk CP, Ahmed SF, et al. (2006). Consensus statement on management of intersex disorders. Pediatrics. 2006;118(2): e488-e500.
4. Hasegawa T, Kondo S, Ohta K, et al. (2015). Genetic analysis of the SRY gene in patients with 46XY complete gonadal dysgenesis. J Pediatr Endocrinol Metab. 2015;28(5–6): 597–604.
5. McCann-Crosby B, Gunn S, et al. (2015). Association of immunohistochemical markers with premalignancy in gonadal dysgenesis. Int J Pediatr Endocrinol.2015; 2015:14.
6. Finkelstein JS, Shulman JD, et al. (1993). Testicular tumors in patients with 46XY gonadal dysgenesis: A retrospective cohort study. J Clin Endocrinol Metab. 1993;76(3): 559–564.
7. Creighton SM, Michala L. (2009). XY female syndrome: Swyer syndrome. Best Pract Res Clin Obstet Gynaecol. 2009;24(2): 139–148.
8. Cools M,Drop SLS,Wolffenbuttel KP,Et al. Germ cell tumours in disorders of sex development:Pathophysiological and clinical relevance. Endocr rev.2006;27(5):468-484
9. Tominari T, Tominari A, Hamada Y, et al. (2020). A case of Swyer syndrome with successful pregnancy using donor eggs. J Obstet Gynaecol. 2020;40(5): 709–710.
10. Quinn A, Smith K, Evans A. (2017). Tumor risks and surveillance in 46XY complete gonadal dysgenesis. J Clin Endocrinol Metab. 2017;102(3): 911–917.
11. King TFJ, Conway GS. (2014). Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014;21(6): 504–510.
12. DiNapoli L, et al. (2015). Hormonal therapy in Swyer syndrome: A comprehensive review. Clin Endocrinol. 2015;86(3): 295–302.
13. Michala L, et al. (2009). The psychological and quality of life outcomes in patients with Swyer syndrome. J Obstet Gynaecol. 2009;30(5): 433–438
14. Korkmaz H, et al. (2014). Psychological aspects of Swyer syndrome: A clinical review. Psychosomatics. 2014;55(5): 485–492
Copyright (c) 2025 Author (s). Published by Siddharth Health Research and Social Welfare Society
This work is licensed under a Creative Commons Attribution 4.0 International License.
OAI - Open Archives Initiative
Therapoid
