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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

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Homozygosity for two missense mutations in the leptin receptor gene (P316T;W646C) in a Turkmenian girl with severe early-onset obesity

Nesibe Andiran
  • Department of Pediatrics, Division of Endocrinology, Faculty of Medicine, Fatih University, Ankara, Turkey
/ Nurullah Çelik
  • Department of Pediatrics, Division of Endocrinology, Faculty of Medicine, Fatih University, Ankara, Turkey
  • Email:
/ Fatih Andiran
  • Department of Pediatrics, Division of Endocrinology, Faculty of Medicine, Fatih University, Ankara, Turkey
Published Online: 2011-11-24 | DOI: https://doi.org/10.1515/JPEM.2011.313

Abstract

Leptin receptor gene mutations are a very rare cause of severe early-onset obesity. They are also associated with lack of pubertal development and intense hyperphagia. Presented here is a case of a 6-year-old Turkmenian girl with monogenic obesity due to a congenital deficiency of the leptin receptor. She was born from a consanguineous marriage of second cousins after 40 gestational weeks following an uncomplicated pregnancy. Her birth weight was 3500 g. However, rapid weight gain was observed after 6 months. On presentation she was 130 cm tall [>97th percentile; standard deviation score (SDS): +2], with a weight of 90 kg (>97th percentile; SDS: +5.3) and a body mass index (BMI) of 53.2 kg/m2 (SDS: +3.6). Results of genetic evaluation revealed the patient to be homo­zygous for two missense mutations in the leptın receptor gene (P316T;W646C) resulting in complete loss of leptin receptor function. Both parents were heterozygous for the same pair of missence mutations.

Keywords: leptin; leptin receptor gene (LEPR); monogenic obesity

About the article

Corresponding author: Nurullah Çelik, Department of Pediatrics, Division of Endocrinology, Faculty of Medicine, Fatih University, Ankara, Turkey Phone: +312 2035075, Fax: +312 2213670


Received: 2011-06-19

Accepted: 2011-10-24

Published Online: 2011-11-24

Published in Print: 2011-12-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/JPEM.2011.313. Export Citation

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