"Mixed" gonadal dysgenesis, a case with male phenotype and 45,X-46,XY mosaicism.

Abstract

ABSTRACT A 48-year-old male with 45,X/46,XY mosaicism and mixed gonadal dysgenesis is presented. His height was 157 cm he had a shield-like chest and multiple skin naevi. The patient had been operated on for hypospadias. At 44 he became mildly diabetic. On the left side of the scrotum there was a testicle measuring 2 cm, showing a histological picture of the »Sertoli cell only« syndrome. Laparotomy revealed a uterus, a vas deferens and a Fallopian tube. A streak gonad was located on the right side. Histologically the streak gonad resembled those typical of female Turner's syndrome, and the histology of the testis resembled that commonly found in male Turner's syndrome. Cultures of lymphocytes from the peripheral blood made in 1961, 1962 and 1969 revealed 6, 31 and 12 per cent respectively of cells with the karyotype 46,XY. The remainder of the cells had the karyotype 45,X. Fibroblasts grown from skin biopsies invariably showed only 45,X cells. Mitoses from tissue cultures of the testis showed 29% cells with the karyotype 46,XY. The apparent variations in the proportions of the different stem-lines between different tissues and at different times in mosaicism are emphasized. Other reports on phenotypic males with the clinical picture of »mixed« gonadal dysgenesis and X/XY mosaicism or related karyotypes are briefly reviewed with emphasis on the testicular histology and the presence of congenital anomalies other than those connected with the genital system.