Familial Hypogonadotrophic Eunuchoidism with Cerebellar Ataxia

Publisher Website
Google Scholar
Abstract
Two brothers, aged 23 and 31, exhibiting hypogonadotrophic eunuchoidism with cerebellar ataxia have been studied. The chromosome examinations revealed a normal male karyotype in each. A maternal uncle (not studied) apparently has the same syndrome. Seminiferous tubular dysgenesis and hypogonadotrophic eunuchoidism have been described previously in association with Friedreich's ataxia, of which cerebellar ataxia is a variant. While seminiferous tubular dysgenesis has also been described with cerebellar ataxia, the patients reported herein appear to be the first cases of hypogonadotrophic eunuchoidism in association with cerebellar ataxia to be reported. The disease entity could be due to either multiple gene linkage or a single mutant gene, but the available family data are insufficient to permit formulation of the genetic defect in these patients.