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Case Reports
. 2010 Nov;54(8):690-7.
doi: 10.1590/s0004-27302010000800005.

Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy

Gilberto Paz-Filho  1 , Claudio Mastronardi, Tuncay Delibasi, Ma-Li Wong, Julio Licinio
Affiliations
Case Reports

Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy

Gilberto Paz-Filho et al. Arq Bras Endocrinol Metabol. 2010 Nov.

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.

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Figures

Figure 1
Figure 1
Agarose gel of homozygous, heterozygous and wild-type patients for the C105T mutation of the leptin gene. Adapted from (7) with permission.
Figure 2
Figure 2
Pedigree chart of the Turkish cohort. Patient A: 34-year-old male; patient B: 44-year-old female; patient C: 49-year-old female; patient D: 10-year-old boy (actual ages); patient E: 9-year-old deceased girl.
Figure 3
Figure 3
Adult patients before (A) and 18 months after treatment (B). Adapted from (13) with permission.
Figure 4
Figure 4
Weights (A), energy intake (B), and r-metHuLeptin dose (C) over the first 18 months of treatment. Adapted from (13) with permission.
Figure 5
Figure 5
Patient's D growth and body mass index charts. The patient experienced substantial weight gain in the last evaluation due to a brief period of shortage of supplies.
See this image and copyright information in PMC

References

    1. Kelesidis T, Kelesidis I, Chou S, Mantzoros CS. Narrative review: the role of leptin in human physiology: emerging clinical applications. Ann Intern Med. 2010;152:93–100. - PMC - PubMed
    1. Friedman JM. Leptin, leptin receptors, and the control of body weight. Nutr Rev. 1998;56:s38–46. - PubMed
    1. Velloso LA. The hypothalamic control of feeding and thermogenesis: implications on the development of obesity. Arq Bras Endocrinol Metabol. 2006;50:165–76. - PubMed
    1. Boucher J, Castan-Laurell I, Daviaud D, Guigne C, Buleon M, Carpene C, et al. Adipokine expression profile in adipocytes of different mouse models of obesity. Horm Metab Res. 2005;37:761–7. - PubMed
    1. Feitosa AC, Mancini MC, Cercato C, Villares SM, Halpern A. Metabolic profile according to leptin levels in obese patients. Arq Bras Endocrinol Metabol. 2007;51:59–64. - PubMed

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