Abstract | 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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Authors | S Wiegand, H Krude |
Journal | Der Internist
(Internist (Berl))
Vol. 56
Issue 2
Pg. 111-2, 114-20
(Feb 2015)
ISSN: 1432-1289 [Electronic] Germany |
Vernacular Title | Monogene und syndromale Krankheitsbilder bei morbider Adipositas. Selten aber wichtig. |
PMID | 25630806
(Publication Type: English Abstract, Journal Article)
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Chemical References |
- Genetic Markers
- Leptin
- MC4R protein, human
- Receptor, Melanocortin, Type 4
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Topics |
- Child, Preschool
- Female
- Genetic Markers
(genetics)
- Genetic Predisposition to Disease
(genetics)
- Genetic Testing
(methods)
- Humans
- Infant, Newborn
- Leptin
(blood)
- Male
- Obesity, Morbid
(blood, diagnosis, genetics)
- Polymorphism, Single Nucleotide
(genetics)
- Receptor, Melanocortin, Type 4
(genetics)
- Symptom Assessment
(methods)
- Syndrome
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