Article
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.
Hormone research in paediatrics - 1 Jan 2016
Hannema Sabine E, Wit Jan M, Houdijk Mieke E C A M, van Haeringen Arie, Bik Elsa C, Verkerk Annemieke J M H, Uitterlinden André G, Kant Sarina G, Oostdijk Wilma, Bakker Egbert, Delemarre-van de Waal Henriette A, Losekoot Monique
Abstract excerpt
BACKGROUND: Recessive mutations in the leptin receptor (LEPR) are a rare cause of hyperphagia and severe early-onset obesity. To date, the phenotype has only been described in 25 obese children, some of whom also had altered immune function, hypogonadotropic hypogonadism, reduced growth hormone secretion, hypothalamic hypothyroidism or reduced adult height. We provide a detailed description of the phenotype of 2...
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