Literature DB >> 28951511

Young girl with severe early-onset obesity and hyperphagia.

Lotte Kleinendorst1, Mieke M van Haelst1,2, Erica L T van den Akker3.   

Abstract

This case report of an infant with severe early-onset obesity illustrates the societal condemnation of persons with obesity. In addition, it underlines the importance of diagnosing rare forms of monogenic obesity, even if no drug treatment is available. Here, we describe a 2-year-old girl with severe progressive obesity from birth onwards due to insatiable hunger. Genetic studies eventually reveal that the girl has a monogenic form of obesity caused by two mutations in the LEPR gene. No drug treatment is available (as yet) for this disease. Parents describe the stigmatic remarks they have to deal with every day. Diagnosing this rare genetic disorder was very important for understanding that satiety regulation is a complex system, of which willpower is only a small portion. In these patients, reduction of obesity can be achieved, but a different approach to lifestyle intervention is needed. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Entities:  

Keywords:  childhood nutrition (paediatrics); endocrinology; genetics; obesity (nutrition); obesity (public Health)

Mesh:

Substances:

Year:  2017        PMID: 28951511      PMCID: PMC5747791          DOI: 10.1136/bcr-2017-221067

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  7 in total

1.  Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.

Authors:  Sabine E Hannema; Jan M Wit; Mieke E C A M Houdijk; Arie van Haeringen; Elsa C Bik; Annemieke J M H Verkerk; André G Uitterlinden; Sarina G Kant; Wilma Oostdijk; Egbert Bakker; Henriette A Delemarre-van de Waal; Monique Losekoot
Journal:  Horm Res Paediatr       Date:  2016-03-01       Impact factor: 2.852

2.  Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery.

Authors:  Johanne Le Beyec; Christine Cugnet-Anceau; Dominique Pépin; Rohia Alili; Aurelie Cotillard; Jean-Marc Lacorte; Arnaud Basdevant; Martine Laville; Karine Clément
Journal:  J Clin Endocrinol Metab       Date:  2012-12-28       Impact factor: 5.958

3.  Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

Authors:  I Sadaf Farooqi; Julia M Keogh; Giles S H Yeo; Emma J Lank; Tim Cheetham; Stephen O'Rahilly
Journal:  N Engl J Med       Date:  2003-03-20       Impact factor: 91.245

4.  Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist.

Authors:  Peter Kühnen; Karine Clément; Susanna Wiegand; Oliver Blankenstein; Keith Gottesdiener; Lea L Martini; Knut Mai; Ulrike Blume-Peytavi; Annette Grüters; Heiko Krude
Journal:  N Engl J Med       Date:  2016-07-21       Impact factor: 91.245

5.  Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline.

Authors:  Dennis M Styne; Silva A Arslanian; Ellen L Connor; Ismaa Sadaf Farooqi; M Hassan Murad; Janet H Silverstein; Jack A Yanovski
Journal:  J Clin Endocrinol Metab       Date:  2017-03-01       Impact factor: 5.958

6.  Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

Authors:  I Sadaf Farooqi; Teresia Wangensteen; Stephan Collins; Wendy Kimber; Giuseppe Matarese; Julia M Keogh; Emma Lank; Bill Bottomley; Judith Lopez-Fernandez; Ivan Ferraz-Amaro; Mehul T Dattani; Oya Ercan; Anne Grethe Myhre; Lars Retterstol; Richard Stanhope; Julie A Edge; Sheila McKenzie; Nader Lessan; Maryam Ghodsi; Veronica De Rosa; Francesco Perna; Silvia Fontana; Inês Barroso; Dag E Undlien; Stephen O'Rahilly
Journal:  N Engl J Med       Date:  2007-01-18       Impact factor: 91.245

7.  A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.

Authors:  K Clément; C Vaisse; N Lahlou; S Cabrol; V Pelloux; D Cassuto; M Gourmelen; C Dina; J Chambaz; J M Lacorte; A Basdevant; P Bougnères; Y Lebouc; P Froguel; B Guy-Grand
Journal:  Nature       Date:  1998-03-26       Impact factor: 49.962

  7 in total
  4 in total

Review 1.  Leptin Receptor Compound Heterozygosity in Humans and Animal Models.

Authors:  Claudia Berger; Nora Klöting
Journal:  Int J Mol Sci       Date:  2021-04-25       Impact factor: 5.923

2.  The Complexity and Stigma of Pediatric Obesity.

Authors:  Andrea M Haqq; Maryam Kebbe; Qiming Tan; Melania Manco; Ximena Ramos Salas
Journal:  Child Obes       Date:  2021-03-29       Impact factor: 2.992

3.  Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.

Authors:  Lotte Kleinendorst; Ozair Abawi; Bibian van der Voorn; Mieke H T M Jongejan; Annelies E Brandsma; Jenny A Visser; Elisabeth F C van Rossum; Bert van der Zwaag; Mariëlle Alders; Elles M J Boon; Mieke M van Haelst; Erica L T van den Akker
Journal:  PLoS One       Date:  2020-05-08       Impact factor: 3.240

Review 4.  The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits.

Authors:  Anke Hinney; Antje Körner; Pamela Fischer-Posovszky
Journal:  Nat Rev Endocrinol       Date:  2022-07-28       Impact factor: 47.564

  4 in total

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