A rare case of Swyer’s syndrome

Swyer syndrome was first described by Jim Swyer in 1955. It is a form of “Pure Gonadal Dysgenesis”. The affected female has 46XY karyotype. A 17 year old unmarried girl came with complaints of primary amenorrhea, non development of breast. On examination she has normal built. Examination of secondary sexual characters revealed no breast development, pubic and axillary hairs were sparse. Female type of genitalia with vaginal opening. Serum FSH was 117.5 mIU/ml. Thyroid and Prolactin was in normal range. Karyotype showed genotype of 46XY. Diagnostic laparoscopy showed streak gonads, small uterus, and normal fallopian tubes. Diagnosis of Swyer syndrome was made. Patient was started on hormonal replacement therapy (HRT). In Swyer syndrome there is a mutation of SRY gene leads failure of development of testis. Mullerian duct development takes place by default. These patients can have normal sexual intercourse and can become pregnant by donor oocyte. They need to be on HRT. The risk of gonadoblastoma and dysgerminoma are very high in streak gonads so bilateral gonadectomy is advised