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A case of Bardet-Biedl Syndrome with Hypogonadism

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Stanley Medical College, Department of Medicine

A 23-year-old male presented with delayed developmental milestones, diminished vision since childhood, and poor genital development. Examination found short stature, obesity, polydactyly, retinal degeneration, and small testes. Investigations showed hypogonadism. He was diagnosed with Bardet-Biedl syndrome based on meeting diagnostic criteria of obesity, polydactyly, retinal degeneration, learning disabilities, and hypogonadism. This is a rare genetic disorder caused by defects in basal body and cilia function.

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PROF.DR.G.SUNDARAMURTHY’S UNIT DR.K.SENTHAMIZH SELVAN A CASE OF HYPOGONADISM
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Optic fundus
Optic fundus
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ENT EVALUATION ,[object Object]
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MRI BRAIN
 
 
IMPRESSION ,[object Object],[object Object]
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FINAL DIAGNOSIS ,[object Object],[object Object],[object Object]
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PATHOGENESIS OF BBS ,[object Object],[object Object],[object Object],[object Object],[object Object]
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MOLECULAR DIAGNOSIS ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
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