Abstract 50: Kallmann syndrome: Case report
Introduction: About 60% of patients with IHH have associated anosmia and are labeled as Kallmann syndrome. It is associated with non sexual phenotypical features such as renal agenesis, synkinesia, sensorineural hearing loss, cleft lip and cleft palate. Midline defects are known to occur in kallmann...
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Published in | Indian journal of endocrinology and metabolism Vol. 26; no. 8; p. 21 |
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Main Author | |
Format | Journal Article |
Language | English |
Published |
Pradesh
Wolters Kluwer India Pvt. Ltd
01.12.2022
Medknow Publications and Media Pvt. Ltd Medknow Publications & Media Pvt. Ltd |
Subjects | |
Online Access | Get full text |
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Summary: | Introduction: About 60% of patients with IHH have associated anosmia and are labeled as Kallmann syndrome. It is associated with non sexual phenotypical features such as renal agenesis, synkinesia, sensorineural hearing loss, cleft lip and cleft palate. Midline defects are known to occur in kallmann syndrome, but association with situsinversus is not found till date, we have diagnosed patient with situsinversus, may be the first case in medical literature.
Case Report: 14-year old male presented with history of -small penile length, small testes, failure to attainsecondary sexual characteristics, progressive bilateral breast enlargement since two years, history of cleft lip that is operated at 1 year of age. Hormonal profile was suggestive of hypogonadotropic, hypogonadism.
MRI-suggestive of olfactory bulb, sulcus, lobe hypoplasia
USG abdomen-spleen right side, liver on left side Chest xray-suggestive of dextrocardia
Conclusion: Situsinversus may represent spectrum of midline defect and may have association with Kallmann syndrome. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 |
ISSN: | 2230-8210 2230-9500 2230-9500 |
DOI: | 10.4103/2230-8210.363738 |