Laparoscopic gonadectomy for androgen insensitivity syndrome – case report

Abstract

Summary Androgen insensitivity syndrome (AIS, Morris syndrome) is an X-linked recessive disorder of sexual development caused by the mutation of the androgen receptor coding gene (locus Xq11-q12). We present a case of a 17-year-old girl diagnosed because of primary amenorrhea. Her cytogenetic analysis revealed the kariotype of 46, XY. Clinical examinations, based on the Quigley’s scale, showed features of complete AIS. Hormonal tests brought the following results: FSH – 2.81mIU/ml, LH – 13.88mIU/ml. Testosterone value met the norm for a male individual in reproductive age (7.97ng/ml). Family anamnesis revealed no episodes of genetic diseases. Due to the risk of neoplasia, the diagnosis was an indication for surgical gonads removal, which was performed laparoscopically. Histopathologic examination showed tubular adenoma with immature seminiferous tubules without spermatogenesis, and serous cysts. Patient was discharged on the next day after the operation in good general condition, and estrogen therapy was prescribed. Conclusion: Laparoscopy is an effective method in AIS treatment.