Document Detail


Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss.
MedLine Citation:
PMID:  15624272     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
N A Georgopoulos; S Papapetropoulos; E Chroni; E S Papadeas; P A Dimopoulos; V Kyriazopoulout; M B Davis; L Eunson; G Kourounis; V A Tzingounist
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology     Volume:  19     ISSN:  0951-3590     ISO Abbreviation:  Gynecol. Endocrinol.     Publication Date:  2004 Aug 
Date Detail:
Created Date:  2004-12-30     Completed Date:  2005-01-18     Revised Date:  2005-02-14    
Medline Journal Info:
Nlm Unique ID:  8807913     Medline TA:  Gynecol Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  105-10     Citation Subset:  IM    
Affiliation:
Division of Reproductive Endocrinology, University of Patras Medical School, Greece.
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MeSH Terms
Descriptor/Qualifier:
Adult
Amenorrhea / etiology
Female
Hearing Loss, Sensorineural / complications,  genetics*
Humans
Hypogonadism / complications,  genetics*
Karyotyping
Magnetic Resonance Imaging
Pedigree
Spinocerebellar Ataxias / complications,  genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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