Journal of Human Reproductive Science
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CASE REPORT Table of Contents   
Year : 2017  |  Volume : 10  |  Issue : 4  |  Page : 310-312
A case of primary amenorrhea with swyer syndrome


Department of Obstetrics and Gynaecology, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India

Correspondence Address:
Dr. Vineet V Mishra
Department of Obstetrics and Gynecology, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jhrs.JHRS_128_17

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Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 14-year-old unmarried girl was referred with complaints of primary amenorrhea and nondevelopment of breast. Her built was normal. Examination of her secondary sexual characteristics revealed no breast development, absent axillary hairs, and sparse pubic hairs. External genitalia was of female type. Karyotype showed genotype of 46, XY. Magnetic resonance imaging revealed hypoplastic uterus with absent fallopian tubes and ovaries. A diagnosis of Swyer syndrome was made. Laparoscopy showed infantile uterus, normal fallopian tubes, and streak gonads. Laparoscopic removal of streak gonads was done as there is a risk of gonadoblastoma in such cases. The patient was started on hormonal replacement therapy. Swyer syndrome results mainly due to mutation in certain genes such as SRY gene, which leads to failure of development of testis.


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