SUMMARY A family with familial cerebellar ataxia and hypogonadotropic hypogonadism is described. The condition was inherited as an autosomal recessive defect. CT scan in one case revealed cerebellar and brain stem atrophy. Endocrinological tests showed abnormalities only in two patients who were clinically affected. In both cases raised gonadotropic levels were found after repetitive stimulation with luteining hormone-releasing hormone which suggests that the hypogonadism was due to a primary hypothalamic disturbance.Familial cerebellar ataxia and hypogonadism is a rare disorder in which spinocerebellar atrophy is accompanied by hypogonadotrophic hypogonadism. 1-3 In the cases previously reported, the diagnosis of hypogonadotropic hypogonadism was based on low levels of urinary gonadotropins. 1-6 A hypothalamic origin for this hypogonadism was postulated,' 5 but not demonstrated. The investigations carried out on the family reported here suggest a hypothalamic LHRH deficiency. Case reportsThe pedigree (fig (A)) of the family involved in the study showed obvious consanguinity between the parents of the affected individuals. No abnormalities were found on clinical examination of cases V-5, V-6, VI-5, VI-6, VI-8, VI-9 and VI-1.Case VI-10 A 34-year-old female, married, with no children. At the age 20 years, the patient had been treated for primary amenorrhoea and absence of secondary sexual characteristics. Since then sequential therapy had been (fig (B)), and atrophy of the superior vermis (fig (C)

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