DOI: 10.36347/sjmcr.2022.v10i02.032

Pages: 171-173

Swyer syndrome is defined as pure XY gonadal dysgenesis (PGD). The phenotype is unequivocally female with a clinical history of primary amenorrhea and impuberty. We present a case of primary amenorrhea for which the etiological investigation revealed a 46XY karyotype. The patient was 34 years old and was admitted to the hospital for the development of primary amenorrhoea. On clinical examination, the patient had an adult female morphotype with a normal vulva. Hormonal work-up revealed hypogonado-hypergonadotropic, pelvic MRI: showed normal vagina and uterus with bilateral hypotrophic ovaries without follicles, complemented by a karyotype which showed 46XY on all metaphases analysed. The patient was put on oestrogen and vitamin supplementation and psychological counselling. A prophylactic gonadectomy was indicated for the patient. Swyer's syndrome remains a rare condition, even less so in the hierarchy of etiologies of primary amenorrhea. The performance of a karyotype in primary amenorrhoea has made this diagnosis possible. The risk of malignant transformation of undifferentiated gonads is high, requiring discussion of prophylactic gonadectomy as soon as the diagnosis is established. Complications of hypoestrogenism and psychological counselling are the other main areas of treatment. Up to now, egg donation remains the only alternative for infertility.