/cerebellar ataxia-hypogonadism syndrome

cerebellar ataxia-hypogonadism syndrome

Rare Disease

MONDO:0008935

Also Known As

Gordon-Holmes syndromeluteinizing hormone-releasing hormone deficiency with ataxiaGDHSGordon Holmes syndromeLHRH deficiency and ataxiacerebellar ataxia - hypogonadismcerebellar ataxia and hypogonadotropic hypogonadismluteinizing hormone releasing hormone, deficiency of with ataxialuteinizing hormone-releasing hormone, deficiency of, with ataxia

Definition

Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.