title: Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy.
abstract: To describe our 10-year experience in treating leptin-deficient humans. Three adults and one boy presented with childhood-onset morbid obesity, hypogonadism and family history of obesity and early death. Serum leptin was inappropriately low. A recessive C105T leptin gene mutation was identified. Metabolic and endocrine assessments were conducted, before and while on and off leptin. The adults' body mass index decreased from 51.2 ± 2.5 to 29.5 ± 2.8 kg/m(2). Serum lipids normalized, insulin resistance decreased, and one of the initially diabetic females became normoglycemic. Hypogonadotropic hypogonadism was reversed, and other changes were observed in the adrenal, sympathetic, somatotropic and thyroid functions. Leptin replacement therapy reverses endocrine and metabolic alterations associated with leptin deficiency. Some of these results may be extrapolated to other diseases.
authors.affiliation: John Curtin School of Medical Research, The Australian National University, Canberra, Australia.
authors.forename: Gilberto
authors.initials: G
authors.lastname: Paz-Filho
authors.forename: Claudio
authors.initials: C
authors.lastname: Mastronardi
authors.forename: Tuncay
authors.initials: T
authors.lastname: Delibasi
authors.forename: Ma-Li
authors.initials: ML
authors.lastname: Wong
authors.forename: Julio
authors.initials: J
authors.lastname: Licinio
mesh_terms: D000328:Adult; D015992:Body Mass Index; D002648:Child; D004734:Energy Metabolism / Q000187:drug effects; D005260:Female; D020249:Hormone Replacement Therapy / Q000009:adverse effects*; D006801:Humans; D007006:Hypogonadism / Q000378:metabolism; D020738:Leptin / Q000172:deficiency* / Q000235:genetics / Q000627:therapeutic use*; D050356:Lipid Metabolism / Q000187:drug effects; D008297:Male; D010641:Phenotype; D055815:Young Adult
chemical_list: D020738:Leptin