[Swyer syndrome: report of 5 cases]

Abstract

Introduction: Swyer's syndrome is a distinct type of pure gonadal dysgenesis characterized by a 46 XY karyotype in female phenotypic patients. It shows an abnormality in testicular differentiation. The disease is a sex-reversal disorder resulting from embryonic testicular regression sequences.

Material and methods: We present the clinical, sonographic and endocrine findings in five cases of phenotypic young girls with XY karyotype and gonadal dysgenesis. The treatment and the follow-up are discussed.

Results: The mean age was of 17.6 years. All patients presented with primary amenorrhea. All patients had female-type external genitalia. Secondary sexual characters were merely developed in all cases. FSH levels were high with a mean of 80.5. The surgical findings were steak fibrous gonads, two cases of gonadoblastoma and one case of dysgerminoma in a 13-year-old teenager.

Conclusion: The risk of gonadal neoplasia is high, dictating early prophylactic removal of these dysgenesic gonads.