Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy

被引：76

作者：

Paz-Filho, Gilberto ^{[1
]}

Mastronardi, Claudio ^{[1
]}

Delibasi, Tuncay ^{[2
]}

Wong, Ma-Li ^{[1
]}

Licinio, Julio ^{[1
]}

机构：

[1] Australian Natl Univ, John Curtin Sch Med Res, Canberra, ACT 2601, Australia

[2] Ankara Diskapi Training & Res Hosp Ankara, Dept Endocrinol & Metab, Ankara, Turkey

来源：

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA | 2010年 / 54卷 / 08期

基金：

美国国家卫生研究院;

关键词：

MISSENSE MUTATION; PLASMA LEPTIN; OBESITY; HYPOGONADISM; SENSITIVITY; DYSFUNCTION; DISEASE; PROFILE; GENE;

D O I：

10.1590/S0004-27302010000800005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. Arq Bras Endocrinol Metab. 2010;54(8):690-7

引用

页码：690 / 697

页数：8

共 36 条

[1] Deconvolution of Insulin Secretion, Insulin Hepatic Extraction Post-hepatic Delivery Rates and Sensitivity during 24-hour Standardized Meals: Time Course of Glucose Homeostasis in Leptin Replacement Treatment [J].

Andreev, V. P. ;

Paz-Filho, G. ;

Wong, M-L. ;

Licinio, J. .

HORMONE AND METABOLIC RESEARCH, 2009, 41 (02) :142-151

[2] Leptin replacement alters brain response to food cues in genetically leptin-deficient adults [J].

Baicy, Kate ;

London, Edythe D. ;

Monterosso, John ;

Wong, Ma-Li ;

Delibasi, Tuncay ;

Sharma, Anil ;

Licinio, Julio .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (46) :18276-18279

[3] Adipokine expression profile in adipocytes of different mouse models of obesity [J].

Boucher, J ;

Castan-Laurell, I ;

Daviaud, D ;

Guigné, C ;

Buléon, M ;

Carpéne, C ;

Saulnier-Blache, JS ;

Valet, P .

HORMONE AND METABOLIC RESEARCH, 2005, 37 (12) :761-767

[4] Decrease in leptin production by the adipose tissue in obesity associated with severe metabolic syndrome [J].

da Paz-Filho, Gilberto Jorge ;

Volaco, Alexei ;

Suplicy, Henrique Lacerda ;

Radominski, Rosana Bento ;

Boguszewski, Cesar Luiz .

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2009, 53 (09) :1088-1095

[5] Leptin regulates striatal regions and human eating Behavior [J].

Farooqi, I. Sadaf ;

Bullmore, Edward T. ;

Keogh, Julia ;

Gillard, Jonathan ;

O'Rahilly, Stephen ;

Fletcher, Paul C. .

SCIENCE, 2007, 317 (5843) :1355-1355

[6] Effects of recombinant leptin therapy in a child with congenital leptin deficiency [J].

Farooqi, IS ;

Jebb, SA ;

Langmack, G ;

Lawrence, E ;

Cheetham, CH ;

Prentice, AM ;

Hughes, IA ;

McCamish, MA ;

O'Rahilly, S .

NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (12) :879-884

[7] Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency [J].

Farooqi, IS ;

Matarese, G ;

Lord, GM ;

Keogh, JM ;

Lawrence, E ;

Agwu, C ;

Sanna, V ;

Jebb, SA ;

Perna, F ;

Fontana, S ;

Lechler, RI ;

DePaoli, AM ;

O'Rahilly, S .

JOURNAL OF CLINICAL INVESTIGATION, 2002, 110 (08) :1093-1103

[8] Metabolic profile according to leptin levels in obese patients [J].

Feitosa, Alina C. R. ;

Mancini, Marcio C. ;

Cercato, Cintia ;

Villares, Sandra M. ;

Halpern, Alfredo .

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2007, 51 (01) :59-64

[9] A New Missense Mutation in the Leptin Gene Causes Mild Obesity and Hypogonadism without Affecting T Cell Responsiveness [J].

Fischer-Posovszky, Pamela ;

von Schnurbein, Julia ;

Moepps, Barbara ;

Lahr, Georgia ;

Strauss, Gudrun ;

Barth, Thomas F. ;

Kassubek, Jan ;

Muehleder, Hannes ;

Moeller, Peter ;

Debatin, Klaus-Michael ;

Gierschik, Peter ;

Wabitsch, Martin .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (06) :2836-2840

[10]

Friedman JM, 1998, NUTR REV, V56, pS38

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