Deficiência congênita de leptina: Diagnóstico e efeitos da terapia de reposição

Translated title of the contribution: Congenital leptin deficiency: Diagnosis and effects of leptin replacement therapy

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

Research output: Contribution to journalArticlepeer-review

76 Citations (Scopus)


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 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.

Translated title of the contributionCongenital leptin deficiency: Diagnosis and effects of leptin replacement therapy
Original languagePortuguese
Pages (from-to)690-697
Number of pages8
JournalArquivos Brasileiros de Endocrinologia e Metabologia
Issue number8
Publication statusPublished or Issued - Nov 2010
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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