GENITAL DUCT DEVELOPMENT ON STREAK GONAD SIDE IN FIFTEEN CHILDREN WITH 45, X AND Y-CONTAINING CHROMOSOME MOSAICISM

Abstract

Genital duct development were studied in 15 children with 45,X and Y-containing chromosane mosaicism by laparotomy.Group 1:One patient showed bilateral intra-abdominal testes with an epididymis, a vas deferens, and a follopian tube. Group 2: Eight patients showed an unilateral scrotal testis and a contralateral streak gonad. On streak gonad side, an epididymis or vas deferens or both were found in 5 patients. Group 3: Four patients showed a unilateral intra-abdominal testis and a contralateral streak gonad. On the streak gonad side, a rudimentary vas deferens was found in 2 patients and a uterus were found in all 4 patients. Group 4: Two patients showed bilateral streak gonads associated with fallopian tube and a uterus. A rudimentary epididymis and vas deferens accompanied 1 out of 4 streak gonads. Twelve patients of Groups 2 and 3 were compatible with a diagnosis of mixed gonadal dysgenesis (MGD). Wolffian duct remnants accompanied 7 (58%) out of 12 streak gonads in 12 patients with MGD. and 8 (50%) out of 16 streak gonads in 14 patients of groups 2, 3 and 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.