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...

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 ...

Introduction: MEN1 is characterized by tumors of parathyroid glands, pituitary and pancreas. Pituitary tumors frequently produce PRL and GH, but acromegaly due to ectopic GHRH secretion has been reported in <1% of cases. Here we present a case of two patients belonging to a MEN1 family (c.207delC; p.P69PfsX118 mutation (ENST00000377313), affected by primary hyperparathyroidism, in association with acromegaly due to ectopic GHRH secretion and bronchial carcinoid, respective...

Thyrotropin-secreting pituitary adenomas (TSH-omas) account for less than 1% of all pituitary adenomas. Here we report retrospective data of 17 patients (seven M and 10 F) with TSH-oma followed at our centre from 1990 to present. Median follow-up time was 9.7 years. The mean age at diagnosis was 43±12 years. Radiological evaluation revealed macroadenomas in 11 of 17 patients (71.6%). Macroadenomas were extrasellar in 58.4% of cases, while only one microadenoma had extrase...