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Congenital leptin deficiency: Diagnosis and effects of leptin replacement therapy

Da Paz Filho, Gilberto; Mastronardi, Claudio; Delibasi, Tuncay; Wong, Ma-Li; Licinio, Julio


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/m2. Serum lipids normalized, insulin...[Show more]

CollectionsANU Research Publications
Date published: 2010
Type: Journal article
Source: Arquivos Brasileiros de Endocrinologia e Metabologia
DOI: 10.1590/S0004-27302010000800005


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