title: [Monogenic and syndromic symptoms of morbid obesity. Rare but important].
abstract: BACKGROUND
  Monogenic and syndromic obesity are rare diseases with variable manifestation. Therefore diagnosis is difficult and often delayed.
  
  
  OBJECTIVE
  The purpose of this work was to develop a clinical diagnostic algorithm for earlier diagnosis.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Sozialpädiatrisches Zentrum (SPZ), Charité-Universitätsmedizin Berlin, Berlin, Deutschland.
authors: S
authors: S
authors: Wiegand
authors: H
authors: H
authors: Krude
mesh_terms: D002675:Child, Preschool; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D020738:Leptin / Q000097:blood; D008297:Male; D009767:Obesity, Morbid / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics*; D063189:Symptom Assessment / Q000379:methods; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D020738:Leptin; C470072:MC4R protein, human; D044105:Receptor, Melanocortin, Type 4
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