Mixed Gonadal Dysgenesis(混合型性腺形成不全症)の2例

Abstract

Two cases of mixed gonadal dysgenesis were herein reported. Case one was a 16-year-old, legally male patient and the other was a 11-year-old, also legally male patient. Sex chromosome analysis revealed mosaicism of 45XO/46XY in both cases. A hypoplastic uterus with fallopian tube, a testicle on one side and a streak gonad on the other side were discovered at exploratory laparotomy in each cases. Intersexuality is found with high incidence in patients with cryptorchidism and hypospadias. In these cases, a complete evaluation is warranted and following examinations should be carried out; karyotype, retrograde urethrogram, cystoscopy, gonadal biopsy and abdominal exploration, if necessary, to look for mullerian structures. Frequent occurrence of gonadal malignancy is pointed out after orchiopexy in cases of mixed gonadal dysgenesis, so follow up is throughly necessary.