ArticleDer Internist2015
[Monogenic and syndromic symptoms of morbid obesity. Rare but important].
Article in Der Internist, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 13 citations in OpenAlex.
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.International journal of obesity (2005) · 2018Article
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2 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundMonogenic and syndromic obesity are rare diseases with variable manifestation. Therefore diagnosis is difficult and often delayed.
objectivesThe purpose of this work was to develop a clinical diagnostic algorithm for earlier diagnosis. MATERIAL AND
methodsAvailable publications for clinical symptoms and molecular defects of monogenic and syndromic obesity cases were evaluated.
resultsMonogenic 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.
conclusionBecause 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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