OBJECTIVE: The first aim of our study was to define the hypogonadism manifested by low testosterone levels and incomplete male secondary sex characteristics in a 20-year-old male homozygous MC4R mutation carrier (G181D). The second aim of our study was to evaluate the effect of the anti-obesity drug sibutramine in this patient who failed to respond to an intensive lifestyle intervention and exhibited continuous weight gain. CASE REPORT: Anthropometric, biochemical, hormonal and psycho-behavioural parameters were investigated both at baseline and after a 1-year sibutramine treatment. To characterise the hypogonadism, sex steroid profile, concentrations of luteinizing hormone and follicle-stimulating hormone were determined. Standard tests with gonadotropin-releasing hormone, thyrotropin-releasing hormone and human chorionic gonadotropin were conducted. Brain magnetic resonance imaging was performed to exclude organic hypothalamic-pituitary lesions. Clinical examination and endocrine investigations revealed hypogonadotropic hypogonadism. Sibutramine induced body weight maintenance as well as improvement in body composition and obesity-related metabolic abnormalities. CONCLUSION: We described the first case of hypogonadotropic hypogonadism in a MC4R homozygous mutation carrier. The potential association between the hormonal disturbance and the hypothalamic derangement caused by the MC4R mutation should be considered. In addition, we demonstrated that sibutramine treatment had a favourable effect on body weight maintenance and obesity-related health risks.

Department of Paediatrics 3rd Faculty of Medicine Charles University Prague Czech Republic

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