Endocrine Abstracts

FTC (OMIM #211900) is a rare autosomal recessive disorder characterized by the presence of ectopic calcifications in the skin and subcutaneous tissues. These calcified masses look like irregular tumors which usually develop in a periarticular position, causing pain and often necessitating surgical excision. The majority of affected individuals have hyperphosphatemia due to increased renotubular reabsorption of phosphate and elevated levels of serum 1,25-dihydroxyvitamin D (cal...

Pseudohypoparathyroidism (PHP) type I includes two major subtypes, Ia and Ib. About 70% of Ia patients, characterized by Albright hereditary osteodystrophy and multihormone resistance (PTH/TSH/GHRH/gonadotropins), carry point mutations in GNAS exons encoding Gsα. About 60% of Ib patients, with hormone resistance limited to PTH and TSH, have methylation defects within GNAS locus (sporadic or genetic-based). Recently, methylation defects were detected in pts with Ia phenoty...

Background: Aberrant cAMP signalling is involved in the pathogenesis of somatotropinomas. Recently, variants of phosphodiesterase type 11A (PDE11A) gene have been described in patients with adrenocortical tumors. Aim of the study was to investigate the presence of these variants in patients with somatotropinomas.Subjects and methods: Germ-line DNA of 78 acromegalic patients was screened for known genetic variants of PDE11A by direct sequencing or restric...

Dopamine agonist cabergoline (CB) is the first-choice treatment in prolactin-secreting adenomas (PRL-omas). It is effective in reducing PRL secretion and tumour size in about 90% of patients by binding dopamine D2 receptor (DRD2). Although no mutations in DRD2 were found, it has been reported that several polymorphisms of this locus associate with alcoholism and schizophrenia, diseases in which dopaminergic system plays an important role. To assess the possible asso...

Introduction: In type 1 multiple endocrine neoplasia (MEN1), primary hyperparathyroidism (PHPT) is a challenging problem due to the high post-surgery recurrence rate. Cinacalcet is a calcimimetic agent which showed to be effective in patients in whom surgery is contraindicated or refused. In this study we assessed the efficacy and the safeness of cinacalcet in MEN1 patients, in comparison with patients with sporadic PHPT (sPHPT). Moreover, the influence of Arg990Gly CASR polym...

Primary hyperparathyroidism (PHPT) negatively affects renal function. It is known that chronic kidney disease is a predictor of cardiometabolic diseases. Cystatin C (cystC), an alternative measure of renal function, has been associated with adverse cardiovascular events and cardiometabolic risk factors. This study was aimed to evaluate serum cystC, its relationships with PTH and cardiometabolic risk in patients with PHPT.The following parameters were mea...

A highly polymorphic microsatellite in the IGF1 gene promoter, composed of variable cytosine-adenine (CA) repeats (n=10–24) has been linked to IGF1 serum concentrations in normal, acromegalic and GHD subjects with conflicting results. Aim of this study was to investigate whether this polymorphism may influence the clinical and biochemical characteristics of adult patients with GHD (n=97). Moreover, the response to 12-month rhGH replacement in terms of IGF1 l...

Primary HPT shows a great variability in its clinical course and severity, which might be related to polymorphic variants of the CASR gene. The aim of the study was to evaluate the frequency of two known CASR single nucleotide polymorphisms (SNPs), i.e. G/T at codon 986 and G/A at codon 990, in a homogenous North-Italian cohort of PHPT patients compared with a sex and age matched healthy population and the possible correlation of these CASR gene variants with the clinical and ...

Patients with primary hyperparathyroidism (PHPT) are at risk of chronic kidney disease (CKD). PHPT patients (n=190, 146 females and 44 males, aged 59.7±14.2 years) and non-hypertensive, non-diabetic age- and sex-matched healthy controls were evaluated for serum cystatin C and creatinine. PHPT patients and controls with established CKD were excluded. Serum cystatin C was measured by immunonephelometric assay and calculation of estimated glomerular filtration rate ...

Introduction: Acromegaly is characterised by chronic exposure to high GH and IGF1 levels that leads to increased bone turnover. Regardless of BMD value, acromegalic patients seem to have an increased vertebral fracture risk probably due to a reduction of bone quality. Trabecular bone score (TBS) is a new index used for assessing bone microarchitecture. In this study TBS was used for the first time to analyze bone quality in acromegaly.Methods: 16 new acr...