| Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association. | |
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MedLine Citation:
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PMID: 8187389 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a male with cerebellar ataxia, hypogonadism and chorioretinopathy. The age of onset was 12. The parents were first cousins. Endocrinologic studies demonstrated hypogonadotropic hypogonadism due to pituitary dysfunction. The ocular disorder involved the choriocapillaris and the retina. The association may represent a separate syndrome, seldom recognized in the past. |
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Authors:
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E Erdem; H Kiratli; T Erbaş; K Varli; B Eldem; S Akalin; E Tan; H Topaloglu; G Gedikoglu |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Clinical neurology and neurosurgery Volume: 96 ISSN: 0303-8467 ISO Abbreviation: Clin Neurol Neurosurg Publication Date: 1994 Feb |
Date Detail:
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Created Date: 1994-06-17 Completed Date: 1994-06-17 Revised Date: 2009-10-14 |
Medline Journal Info:
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Nlm Unique ID: 7502039 Medline TA: Clin Neurol Neurosurg Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 86-91 Citation Subset: IM |
Affiliation:
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Department of Neurology, Hacettepe University School of Medicine, Ankara, Turkey. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Atrophy Cerebellum / pathology Chorioretinitis / diagnosis*, genetics Consanguinity Gonadotropins, Pituitary / deficiency* Humans Hypogonadism / diagnosis*, genetics Magnetic Resonance Imaging Male Pituitary Function Tests Spinocerebellar Degenerations / diagnosis*, genetics Syndrome Tomography, X-Ray Computed |
| Chemical | |
Reg. No./Substance:
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0/Gonadotropins, Pituitary |
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