DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20220201

A laparoscopic management of Swyer syndrome in a woman with pure 46XY gonads and hypoplastic dysgenesis-a rare presentation

Kaavya Sathyamurthy, Nilufer Moideen

Abstract


Swyer syndrome is also known as complete/pure gonadal dysgenesis & is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 23-year-old married girl had come with complaints of primary infertility. She was averagely built & nourished. She had well developed secondary sexual characteristics like  breast development,  axillary hairs, and  pubic hairs (Tanners stage 4) secondary to receiving HRT for getting  menses. External genitalia was of female type. Karyotype showed genotype of 46, XY. Magnetic resonance imaging revealed hypoplastic uterus with rudimentary fallopian tubes , and fibrotic gonad like tissue. A diagnosis of Swyer syndrome was made. The patient was started on hormonal replacement therapy. Dysgenetic streak gonads were removed laparoscopically . Pathologic examination revealed seminiferous tubules ,rete testis & epididymis without evidence of malignant transformation. The patient tolerated the procedure well . Thus laparoscopic prophylactic gonadectomy revealed to be an economical ,straightforward and simple procedure in this patient & risk of neoplasia could be prevented.

 

 


Keywords


Gonadal dysgenesis, Primary amenorrhea, Swyer syndrome

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References


Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46, XY disorders of sex development (DSD). Clin Endocrinol. 2009;70(2):173-87.

Pun R, Pudasaini S, Mahaseth R, Shrestha K. Dysgerminoma in Pseudohermaphroditism: A Case Report. Nepalese Med J. 2020;3(2):384-7.

Kulathilake DT, Jayasundara C. A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia. BMC Res Notes. 2015;8(1):1-5.

Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. Int J Obstetr Gynaecol. 2008;115(6):737-41.

Pieniak K, Olszewska A, Grymowicz M, Smolarczyk R. Swyer Syndrome-Gonadectomy Performed 17 Years after Diagnosis: Case Report. J Med Genetics. 1992;29(8):539-41.

Kellermayer R, Halvax L, Czakó M, Shahid M, Dhillon VS, Husain SA et al. A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46, XY pure gonadal dysgenesis. Diagnostic Molecular Pathol. 2005;14(3):159-63.

Khare J, Deb P, Srivastava P, Reddy BH. Swyer syndrome: The gender swayer? Alexandria J Med. 2017;53(2):197-200.

Afsana F, Pathan MF, Shelly SJ. A Rare Case of Swyer Syndrome. BIRDEM Med J. 2019;9(2):174-6.

Da Silva Rios S, Monteiro IC, Braz Dos Santos LG, Caldas NG, Chen AC, Chen JR et al. A case of Swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. Case Rep Oncol. 2015;8(1):179-84.

King TF, Conway GS. Swyer syndrome. Curr Opinion Endocrinol Diabetes Obesity. 2014;21(6):504-10.

Rey RA, Grinspon RP. Normal male sexual differentiation and aetiology of disorders of sex development. Best Practice Res Clin Endocrinol Metab. 2011;25(2):221-38.

Priya PK, Mishra VV, Choudhary S, Rizvi JS. A case of primary amenorrhea with Swyer syndrome. J Human Reproduct Sci. 2017;10(4):310.

Gupta A, Bajaj R, Jindal UN. A rare case of swyer syndrome in two sisters with successful pregnancy outcome in both. J Human Reproductive Sci. 2019;12(3):267.

Nef S, Parada LF. Hormones in male sexual development. Genes Development. 2000;14(24):3075-86.

Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. Int J Obstetr Gynaecol. 2008;115(6):737-41.

Tulic I, Tulic L, Micic J. Pregnancy in patient with Swyer syndrome. Fertility and sterility. 2011;95(5):1789-e1.

Wilson EE, Vuitch F, Carr BR. Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. Obstetr gynecol. 1992;79(5Pt 2):842-4.

Elagwany AS, Eltawab S, Abouzaid ZS. 46, XY complete gonadal dysgenesis (Swyer syndrome): Report of two different cases. Apollo Med. 2016;13(1):63-6.