Cited by 276Regulation of Appetite and ObesityAdipokines, Inflammation, and Metabolic DiseasesHypothalamic control of reproductive hormones

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Congenital Leptin Deficiency Due to Homozygosity for the Δ133G Mutation: Report of Another Case and Evaluation of Response to Four Years of Leptin Therapy

Gibson, William T., Farooqi, I. Sadaf, Moreau, Mary, DePaoli, Alex M., Lawrence, Elizabeth, O’Rahilly, Stephen, Trussell, Rebecca A.·2004·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2004-0376

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Abstract

Congenital leptin deficiency is a rare, but treatable, cause of severe early-onset obesity. To date, two United Kingdom families of Pakistani origin carrying a frameshift/premature stop mutation, c.398delG (Delta133G), and one Turkish family carrying a missense mutation, c.313C>T (Arg(105)Trp), have been described. Affected subjects are homozygotes and manifest severe obesity and hyperphagia accompanied by metabolic, neuroendocrine, and immune dysfunction. The effects of recombinant leptin therapy have been reported in three children with the Delta133G mutation, and in all cases this has led to a dramatic resolution of clinical and biochemical abnormalities. We now report a Canadian child, of Pakistani origin but unrelated to the previously reported subjects, presenting with severe hyperphagia and obesity, who was found to be homozygous for the Delta133G mutation. In this child, 4 yr of therapy with sc injections of recombinant leptin provided additional evidence for the sustained beneficial effects of leptin replacement on fat mass, hyperinsulinemia, and hyperlipidemia. In addition, leptin administration corrected abnormal thyroid biochemistry and allowed the withdrawal of T(4) treatment, providing additional support for the role of leptin in the regulation of the human hypothalamic-pituitary-thyroid axis.

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Montague, C. T., Farooqi, I. S., Whitehead, J. P., Soos, M. A., Rau, H., Wareham, N. J., Sewter, C. P., Digby, J. E., Mohammed, S. N., Hurst, J. A., et al. (1997) · Nature · doi:10.1038/43185 · Cited by 2,936
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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
Clément, K., Vaisse, C., Lahlou, N., Cabrol, S., Pelloux, V., Cassuto, D., Gourmelen, M., Dina, C., Chambaz, J., Lacorte, J.-M., et al. (1998) · Nature · doi:10.1038/32911 · Cited by 2,346
Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppression
Lord, G. M., Matarese, G., Howard, J. K., Baker, R. J., Bloom, S. R., & Lechler, R. I. (1998) · Nature · doi:10.1038/29795 · Cited by 2,178
Effects of Recombinant Leptin Therapy in a Child with Congenital Leptin Deficiency
Farooqi, I. S., Jebb, S. A., Langmack, G., Lawrence, E., Cheetham, C. H., Prentice, A. M., Hughes, I. A., McCamish, M. A., & O'Rahilly, S. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909163411204 · Cited by 1,998
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A leptin missense mutation associated with hypogonadism and morbid obesity
Strobel, A., Issad, T., Camoin, L., Ozata, M., & Strosberg, A. D. (1998) · Nature Genetics · doi:10.1038/ng0398-213 · Cited by 1,158
Role for Stearoyl-CoA Desaturase-1 in Leptin-Mediated Weight Loss
Cohen, P., Miyazaki, M., Socci, N. D., Hagge-Greenberg, A., Liedtke, W., Soukas, A. A., Sharma, R., Hudgins, L. C., Ntambi, J. M., & Friedman, J. M. (2002) · Science · doi:10.1126/science.1071527 · Cited by 826
Human Leptin Deficiency Caused by a Missense Mutation: Multiple Endocrine Defects, Decreased Sympathetic Tone, and Immune System Dysfunction Indicate New Targets for Leptin Action, Greater Central than Peripheral Resistance to the Effects of Leptin, and Spontaneous Correction of Leptin-Mediated Defects
Ozata, M., Ozdemir, I. C., & Licinio, J. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.10.5999 · Cited by 739
The role of falling leptin levels in the neuroendocrine and metabolic adaptation to short-term starvation in healthy men
Chan, J. L., Heist, K., DePaoli, A. M., Veldhuis, J. D., & Mantzoros, C. S. (2003) · Journal of Clinical Investigation · doi:10.1172/jci17490 · Cited by 697
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Légrádi, G., Emerson, C. H., Ahima, R. S., Flier, J. S., & Lechan, R. M. (1997) · Endocrinology · doi:10.1210/en.138.6.2569 · Cited by 505

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Self-citation

Authors: Gibson, W. T., Farooqi, I. S., Moreau, M., DePaoli, A. M., Lawrence, E., O’Rahilly, S., & Trussell, R. A.
Affiliations: University of Cambridge (GB)
Alberta Children's Hospital (CA)
Amgen (United States) (US)
Corresponding author: Gibson, William T.
ORCID: Gibson, William T.
Farooqi, I. Sadaf
DePaoli, Alex M.
Lawrence, Elizabeth
O’Rahilly, Stephen
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2004-10
Volume: 89
Issue: 10
Pages: 4821-4826
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2004-0376
OpenAlex: W2082181174
Semantic Scholar: ba155a16f73b8ee90e965d2ec74ca1c483c957db
Cited by: 275
References: 17
Citations by year: 2026: 1 · 2025: 6 · 2024: 11 · 2023: 8 · 2022: 5 · 2021: 7 · 2020: 4 · 2019: 9 · 2018: 14 · 2017: 16 · 2016: 11 · 2015: 14 · 2014: 20 · 2013: 15 · 2012: 26
FWCI: 4.51
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Funders: Wellcome Trust (068086)
Health Research Board
Topics: Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Regulation of Appetite and Obesity
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adipokines, Inflammation, and Metabolic Diseases
Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Keywords: congenital leptin deficiency, homozygosity, early-onset obesity, hyperphagia, leptin replacement, hyperinsulinemia, hyperlipidemia, thyroid dysfunction, hypothalamic-pituitary-thyroid axis, Pakistani children
MeSH terms: Body Composition, Body Weight, Bone Development, Child, Child, Preschool, Female, Follicle Stimulating Hormone, Homozygote, Humans, Hypothyroidism, Insulin, Leukocyte Count, Luteinizing Hormone, Lipids, Obesity, Point Mutation, Leptin

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Congenital Leptin Deficiency Due to Homozygosity for the Δ133G Mutation: Report of Another Case and Evaluation of Response to Four Years of Leptin Therapy

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