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

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

doi:10.1590/S0004-27302010000800005

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

81 Citations (Scopus)

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/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 contribution	Congenital leptin deficiency: Diagnosis and effects of leptin replacement therapy
Original language	Portuguese (Brazil)
Pages (from-to)	690-697
Number of pages	8
Journal	Arquivos Brasileiros de Endocrinologia e Metabologia
Volume	54
Issue number	8
DOIs	https://doi.org/10.1590/S0004-27302010000800005
Publication status	Published - Nov 2010

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title = "Defici{\^e}ncia cong{\^e}nita de leptina: Diagn{\'o}stico e efeitos da terapia de reposi{\c c}{\~a}o",

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/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.",

author = "Gilberto Paz-Filho and Claudio Mastronardi and Tuncay Delibasi and Wong, {Ma Li} and Julio Licinio",

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T2 - Diagnóstico e efeitos da terapia de reposição

AU - Paz-Filho, Gilberto

AU - Mastronardi, Claudio

AU - Delibasi, Tuncay

AU - Wong, Ma Li

AU - Licinio, Julio

PY - 2010/11

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AB - 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.

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

Abstract

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