Hypergonadotropic hypogonadism and cerebellar ataxia: an unusual association

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Hypergonadotropic hypogonadism and cerebellar ataxia: an unusual association.

Federal University of São Paulo (UNIFESP), São Paulo SP, Brazil: Department of Neurology and Neurosurgery; Department of Endocrinology; Department of Ophthalmology. The association between cerebellar ataxia and hypogonadism was first described by Gordon Holmes in 1907. It represents a highly heterogenous syndrome with insidious onset. The hypogonadism of most patients with Gordon Holmes syndrom...

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We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, BoucherNeuhauser syndrome, a rare but distinct pleiotropic single gene disorder with an autosomal recessive pattern of inheritance. The cases presented illustrate that this syndrome is still poorly recognised. We provide a review and analysis of previously reported cases and the differentia...

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CASE REPORT 46,XY Hypergonadotropic hypogonadism and myasthenia gravis

Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ...

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The association of ataxia, hypergonadotropic hypogonadism and hearing loss is extremely rare. Considerable heterogeneity exists in the literature of the neurological manifestations, age of onset, clinical severity and associated abnormalities. We describe a 24-year-old woman with secondary hypergonadotropic amenorrhea, early-onset progressive spinocerebellar ataxia (SCA), late-onset sensorineur...

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ژورنال

عنوان ژورنال: Arquivos de Neuro-Psiquiatria

سال: 2010

ISSN: 0004-282X

DOI: 10.1590/s0004-282x2010000100028