Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is an autosomal dominant disorder caused by heterozygous mutations in the polymerase, delta 1, catalytic subunit (POLD1) gene. Here, we report the clinical description of a 10-year-old boy who first presented with short stature and hypogonadism. We screened this patient for mutations by focused exome sequencin...

Treatment with recombinant human growth hormone (rhGH) has been consistently reported to induce transcriptional changes in various human tissues including peripheral blood. For other hormones it has been shown that the induction of such transcriptional effects is conferred or at least accompanied by DNA-methylation changes. To analyse effects of short term rhGH treatment on the DNA-methylome we...

BACKGROUND Hyperleptinaemia is a well-known biochemical feature found in uraemic patients. However, little is known about the hormonal regulation of leptin in chronic renal disease. Recent studies have shown that circulating leptin levels are modified by treatment with recombinant human growth hormone (rhGH), by recombinant insulin-like growth factor I (rhIGF I), or by a combination of rhIGF I ...

BACKGROUND Recombinant human growth hormone (rhGH) reduces visceral adipose tissue (VAT) volume in HIV-infected patients but can worsen glucose homeostasis and lipoatrophy. We aimed to determine if adding rosiglitazone to rhGH would abrogate the adverse effects of rhGH on insulin sensitivity (SI) and subcutaneous adipose tissue (SAT) volume. METHODOLOGY/PRINCIPAL FINDINGS Randomized, double-b...

In order to study the benefit of adding recombinant human growth hormone (rhGH) to antiresorptive therapy, six patients with idiopathic osteoporosis (IO) receiving alendronate plus calcium and vitamin D were started on daily subcutaneous injections of rhGH 2.0 IU for one year. Fasting morning urine and serum samples were collected for N telopeptide of type-1 collagen (NTX), serum bone-specific ...

Sensitive and selective methods for the detection of human growth hormone (hGH) over a wide range of concentrations (high levels of 50-100 ng ml(-) (1) and minimum levels of 0.03 ng ml(-) (1)) in circulating blood are essential as variable levels may indicate altered physiology. For example, growth disorders occurring in childhood can be diagnosed by measuring levels of hGH in blood. Also, the ...

We studied the kinetics of exogenous recombinant 22-kDa human growth hormone (rhGH) in premenopausal women with upper body obesity (UBO), lower body obesity (LBO), or normal body weight. A bolus of 100 mU rhGH was administered during a continuous infusion of somatostatin to suppress endogenous GH secretion. GH kinetics were investigated with noncompartmental analysis of plasma GH curves. GH pea...

BACKGROUND Normal thyroid hormone secretion or appropriate L-thyroxine (L-T4) substitution is necessary for the optimal effect of the growth hormone (GH) administration on growth rate. The decrease of free thyroxine (FT4) levels at recombinant human GH (rhGH) therapy onset has been reported in several studies. The aim of the present study was to evaluate the effect of rhGH administration on thy...