Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis

We report our experience with laparoscopic gonadal biopsy and gonadectomy for a girl with a dicentric Y chromosome in mixed gonadal dysgenesis (MGD). A 4-year-old phenotypic girl was referred to our hospital because of slight enlargement of the clitoris. Fluorescence in situ hybridization analysis with Y chromosome-specific probes showed a karyotype with 45,XO/46,X,+idic(Y)(p11.32) and presence of the sex-determining region Y sequence. The pathologic finding by frozen section technique using laparoscopic biopsy specimens during the operation demonstrated a left streak gonad and right testis, and she was diagnosed with MGD. Finally, we performed laparoscopic bilateral gonadectomy. Laparoscopic management is a good approach for patients with sexual development disorders, including MGD because it provides minimally invasive surgery for children and enables all necessary procedures, including evaluation, biopsy, and gonadectomy, for diagnosis and treatment.