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[Monogenic and syndromic symptoms of morbid obesity. Rare but important].

AbstractBACKGROUND:
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.
AuthorsS Wiegand, H Krude
JournalDer Internist (Internist (Berl)) Vol. 56 Issue 2 Pg. 111-2, 114-20 (Feb 2015) ISSN: 1432-1289 [Electronic] Germany
Vernacular TitleMonogene und syndromale Krankheitsbilder bei morbider Adipositas. Selten aber wichtig.
PMID25630806 (Publication Type: English Abstract, Journal Article)
Chemical References
  • Genetic Markers
  • Leptin
  • MC4R protein, human
  • Receptor, Melanocortin, Type 4
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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