Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families.

Abstract

46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.