SECONDARY AMENORRHEA WITH HYPOGONADOTROPIC HYPOGONADISM ASSOCIATED TO A CEREBELLAR ATAXIA: DIAGNOSIS CONTINGENCIES

The association between hypogonadism and cerebellar ataxia was first recognized and described as a distinct, rare, autosomal recessive syndrome by Gordon Holmes in 1907.Both hypo and hypergonadotrophic forms were descriebed. We report the case of 29-year-old women with secondary amenorrhea and cerebral ataxia and was found to have hypergonadotrophichypogonadism with cerebellar atrophy which is a rare association. She also had a nystagmus, sensorial neurological syndrome, retinal atrophia, and ligamentous hyperlaxity.Other syndromes appears to be also a diagnosis eventuality, such as for Boucher?Neuhauser syndrome The association of spinocerebellar ataxia, hypogonadotropichypogonadism, and chorioretinal dystrophy and Perrault syndrome that the association of hypergonadotropichypogonadism in females and sensorineural hearing loss that is associated also with neurological symptoms evolving or not ataxia. There is little understanding of the pathophysiology mechanism of this association, many theories are proposed in order to make therapeutic advances, specially that heridatarian ataxia have a very bad prognosis, genetic therapies may be revolutioningthe therapeutic arsenal.