Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss.
Gynecol Endocrinol
; 19(2): 105-10, 2004 Aug.
Article
en En
| MEDLINE
| ID: mdl-15624272
ABSTRACT
Cerebellar ataxia has been described as being associated with hypogonadism for almost 100 years. In the majority of cases, hypogonadism is hypogonadotropic. The association of cerebellar ataxia with hypergonadotropic hypogonadism is a rare genetic disorder with a recessive mode of inheritance. Cerebellar ataxia and hypogonadism can also occur associated with a large spectrum of additional clinical manfestations, including mental retardation, sensorineural deafness, choroidal dystrophy, ectodermal dysplasia and short stature, and polyneuropathy. We report the case of a woman with early-onset spinocerebellar ataxia, primary amenorrhea due to hypergonadotropic hypogonadism, and late-onset sensorineural hearing loss. Additional family members from the father's side are affected with late-onset hearing loss, suggesting a dominant mode of inheritance.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxias Espinocerebelosas
/
Pérdida Auditiva Sensorineural
/
Hipogonadismo
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Gynecol Endocrinol
Asunto de la revista:
ENDOCRINOLOGIA
/
GINECOLOGIA
Año:
2004
Tipo del documento:
Article
País de afiliación:
Grecia