Endocrine Abstracts

The aim of this study was to analyze IGF1R gene expression in patients with idiopathic short stature (ISS) and correlate it with their GH and IGF1 status. In a previous study, we reported lower final height in subjects with ISS and GH peak ≥40 mU/l (Group1, n=16) compared to those with ISS and GH peak between 20 and 40 mU/l (Group2, n=15), after stimulation test (ITT) performed before or during puberty. Patients were 16–24 (Group1) and 15–26 (Grou...

Malignant pleural mesothelioma (MPM) is an asbestos-related tumour which is highly resistant to standard treatments, thus continuing to present a therapeutically challenge. Insulin-like growth factor system (IGFs), play an important role in the regulation of solid tumour cell growth. IGFBP-3, the most abundant circulating IGF binding protein, inhibits cell growth by both IGF-I dependent and independent pathways.The aim of our study was to evaluate the ef...

Background: Regular physical exercise during childhood and adolescence can promote growth and development of muscle and bone mass. Although physical exercise is closely linked to the anabolic function of the GH /IGF-I axis the real impact of resistance training on GH/IGF axis is still unclear. The kinetics of IGF-I and IGFBP-3 during chronic training is not fully understood yet and an initial catabolic phase followed by an later anabolic phase has been reported in swimmers.</p...

Background: The GH-IGF system plays an important role in strength gain. Some studies suggest that Zinc, Magnesium and Pyridoxine (ZMA) supplementation could increase GH/IGF and testosterone levels in young subjects. This hypothetical increase could lead to significant changes in body composition. ZMA is a very popular supplement, easily found in specialty stores, and it is presumed to increase GH, IGF-I and testosterone levels. However, studies are divergent regarding its effi...

Background: HIV-infected paediatric patients usually show impaired growth. Data reporting abnormalities in GH–IGF–IGFBPs system are scarce and inconclusive.Aim: To analyse blood concentration of the major components of IGF–IGFBPs system in these children and compare them to growth parameters and to cytokines levels.Methods: prepubertal HIV-infected children, aged 8.2±1.7 years, were evaluated every 6 months duri...

Introduction: Defects in the pseudogene, CYP21A1P, can be transferred to the functional CYP21A2 gene by recombination and account for approximately 95% of CYP21A2 mutations, leading to CAH-21OHD. We conducted a comprehensive genetic analysis to assess whether Multiplex Ligation dependent Probes Amplification (MLPA) could substitute southern blotting with radioactive probes without compromising reliability of the diagnosis.Patients and Methods: We studied...

The hypoxia, associated to intra-uterine growth restriction, is related to high concentrations of IGFBP1 and unchanged concentrations of IGF1 in animals. Nevertheless, during threatening life events, low IGFI concentrations and high IGFBP1 concentrations was reported. Furthermore, severe hypoxia increased the IGF1R expression of the neuronal growth cones in the ovine fetal brain. No information is available regarding the regulation of the IGF system by the acute hypoxia in hum...

Pheochromocytoma/paraganglioma (Pheo/PGL) are rare neuroendocrine tumors generally benign. About 30–40% of Pheo/PGL are due to germ-line mutations in one of the susceptibility genes, including those encoding the succinate dehydrogenase subunits A-D (SDHA-D). Up to 80% of patients affected by SDHB mutated Pheo/PGL develop metastatic disease with no successful cure at present. In this study, we evaluated the different effect of tumor microenvironment on tu...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. To obtain an experimental model resembli...

There is a clinical spectrum of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NC-CAH). In addition, CYP21A2 gene mutations analysis present in homozygosis or as compound heterozygosis.Objectives: To evaluate the relationship between the genotype and biochemical profiles and also compare with clinical severity in NC-CAH.Patients and methods: Clinical, hormonal and molecular data of 57 patien...