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The effect of a common polymorphism in the Growth Hormone (GH) receptor (d3-GHR) gene on growth, metabolism and body composition was examined in short children born small for gestational age (SGA) on GH treatment.In 96 prepubertal, short SGA children treated with high-dose GH (67μg/kg/day) in the NESGAS study, insulin sensitivity (IS), insulin secretion and disposition index (DI) were determined during...
Aim: Klinefelter syndrome (KS) is the most frequent sex chromosome disorder in males, but the phenotype varies greatly and is therefore highly under‐diagnosed. We aimed at describing the phenotypic characteristics throughout life from clinical follow‐up of our large cohort of patients with KS.
Methods: A retrospective observational study of 166 males with nonmosaic 47,XXY KS aged 0.3–80.3 years...
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