" /> Gordon holmes syndrome - CISMeF





Preferred Label : Gordon holmes syndrome;

Symbol : GDHS;

CISMeF acronym : CAHH; GDHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia and hypogonadotropic hypogonadism; Lhrh deficiency and ataxia; Luteinizing hormone-releasing hormone, deficiency of, with ataxia; CAHH;

Description : The cases of Volpe et al. (1963) had eunuchoid skeletal features and low urinary gonadotropins with the additional feature of cerebellar ataxia. Matthews and Rundle (1964) described 2 brothers with pure cerebellar ataxia beginning at about 20 years of age and associated with marked hypogonadism due apparently to low gonadotropin excretion. Conclusive evidence of autosomal recessive inheritance was presented also by Berciano et al. (1982) who observed affected brother and sister with consanguineous parents. They demonstrated, furthermore, that the hypogonadotropism was due to deficiency of hypothalamic LHRH (luteinizing hormone-releasing hormone; LHRH; 152760); raised gonadotropin levels were found after repeated stimulation with exogenous;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RING finger protein 216 gene (RNF216, 609948.0001);

Prefixed ID : #212840;

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29/07/2025


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