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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Editorial Board Member: Darendeliler, Feyza / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Lanes M. D., Roberto / Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / LaFranchi, Stephen H. / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Wabitsch, Martin / Werther, George / Zadik, Zvi

12 Issues per year


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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 Andiran1 / 1 / Fatih Andiran1

1Department of Pediatrics, Division of Endocrinology, Faculty of Medicine, Fatih University, Ankara, Turkey

2Department of Pediatric Surgery, Faculty of Medicine, Fatih University, Ankara, Turkey

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

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 24, Issue 11-12, Pages 1043–1045, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/JPEM.2011.313, November 2011

Publication History

Received:
2011-06-19
Accepted:
2011-10-24
Published Online:
2011-11-24

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

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