Syndrome de Swyer : à propos de cinq cas

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