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[Monogenic and syndromic symptoms of morbid obesity. Rare but important]
1Sozialpädiatrisches Zentrum (SPZ), Charité-Universitätsmedizin Berlin, Berlin, Deutschland.
Background:
Monogenic and syndromic obesity are rare diseases with variable manifestation. Therefore diagnosis is difficult and often delayed.
Objectives:
The purpose of this work was to develop a clinical diagnostic algorithm for earlier diagnosis.
Material And Methods:
Available publications for clinical symptoms and molecular defects of monogenic and syndromic obesity cases were evaluated.
Results:
Monogenic and syndromic obesity can be expected in cases with early manifestation before the age of 5 years and a BMI above 40 or above the 99th percentile. Syndromic cases are mostly associated with a low IQ and dwarfism. Monogenic cases are associated with additional endocrine defects. Measurement of serum leptin proves the treatable leptin deficiency. Sequencing of the melanocortin-4 receptor gene (MC4R) allows diagnosis of the most frequent monogenic form of obesity. Treatment with a melanocyte-stimulating hormone (MSH) analog can be expected in the future. Early treatment of children with Prader-Willi syndrome can prevent severe obesity.
Conclusion:
Because in some cases treatment is available, monogenic and syndromic obesity should be diagnosed early. Based on the disease symptoms, serum leptin, and MC4R sequencing, a diagnostic algorithm is proposed, which can be used to diagnose cases of morbid obesity.
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