| Kallmann's syndrome. | |
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MedLine Citation:
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PMID: 18174649 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings. |
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Authors:
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M L Kulkarni; M D Balaji; Akhil M Kulkarni; S Sushanth; Bhagyavathi M Kulkarni |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Indian journal of pediatrics Volume: 74 ISSN: 0973-7693 ISO Abbreviation: Indian J Pediatr Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2008-01-04 Completed Date: 2008-02-01 Revised Date: 2009-07-15 |
Medline Journal Info:
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Nlm Unique ID: 0417442 Medline TA: Indian J Pediatr Country: India |
Other Details:
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Languages: eng Pagination: 1113-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, J.J.M. Medical College, Davangere, Karnataka, India. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Dose-Response Relationship, Drug Drug Administration Schedule Follow-Up Studies Humans Kallmann Syndrome / diagnosis*, drug therapy* Male Severity of Illness Index Testosterone / therapeutic use* |
| Chemical | |
Reg. No./Substance:
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58-22-0/Testosterone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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