Genital Duct Development on Streak Gonad Side in Fifteen Children with 45, X and Y-containing Chromosome Mosaicism

Abstract

Fifteen children with 45, X and Y-containing chromosome mosaicism were studied. Fourteen had unilateral or bilateral streak gonads. The remaining one patient had bilateral intra-abdominal testes. Development of genital ducts was studied by laparotomy.Group 1: One patient showed bilateral intra-abdominal testes accompanied by an epididymis, a was deferens, and a fallopian tube. Group 2: Eight patients showed an unilateral scrotal testis and a contralateral streak gonad. On the streak gonad side, an epididymis or was deferens or both were found in five, a uterus was found in seven and a fallopian tube was found in all eight patients. Group 3: Four patients showed a unilateral intra-abdominal testis and a contralateral streak gonad. On the streak gonad side, a was deferens was found in two patients and a fallopian tube and a uterus were found in all four patients. On the testis side, an epididymis and a was deferens were found in all four patients, although a fallopian tube was found in only one patient. Group 4: Two patients showed bilateral streak gonads associated with a fallopian tube and a uterus. A rudimentary epididymis and was deferens accompanied one out of four streak gonads of these two patients. Twelve patients of Group 2 and Group 3 were compatible with a diagnosis of mixed gonadal dysgenesis (MGD). Wolffian duct remnants accompanied seven (58%) out of 12 streak gonads in 12 patients with MGD, and eight (50%) out of 16 streak gonads in 14 patients of Group 2, Group 3, and Group 4.These findings indicated that the streak gonads in children with 45, X and Y-containing chromosome mosaicism frequently had functioning Leydig cells at least at the time of differentiation of the genital ducts, although none had properly functioning Sertoli cells at that time.