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Published on: March 1, 2024
[Swyer syndrome: report of 5 cases]
R Ben Temime1, A Chechia, L Attia
1Service de gynécologie obstétrique A, hôpital Charles-Nicolle, 1006 Tunis, Tunisie. temime_r@yahoo.fr
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.
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