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.
©2011 by Walter de Gruyter Berlin Boston
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Artikel in diesem Heft
- Editorial
- Intracranial cysts: large-scale information is needed
- Reviews
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- Radioiodine treatment in pediatric Graves disease and thyroid carcinoma
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- Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome
- Health promotion intervention in Arab-Israeli kindergarten children
- Validation of automatic bone age rating in children with precocious and early puberty
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- Use of nocturnal melatonin concentration and urinary 6-sulfatoxymelatonin excretion to evaluate melatonin status in children with severe sepsis
- Primary ovarian dysfunction after hematopoietic stem cell transplantation during childhood: busulfan-based conditioning is a major concern
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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
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- Meetings
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