Endocrine Abstracts

Background: Adult growth hormone (GH) deficiency (AGHD) is related with alterations in body composition, increased abdominal and visceral adiposity, adverse change in lipid and carbohydrate metabolism, and reduction of bone mineral density (BMD).Aim: To compare baseline outcomes concerning body composition and biochemical/hormonal data among adult patients with AGHD referring to a single endocrinological center and grouped according to their history of r...

Background: Patients with adult growth hormone deficiency (AGHD) have impaired health-related quality of life (QoL). While the effects of reduced muscle mass and vitality-loss on QoL have been well characterized in AGHD, the impact of AGHD on sexual function, a recognized factor influencing well-being, has never been deepened.Aim: To investigate the prevalence of sexual dysfunction in AGHD patients referring to a single endocrinological center and groupe...

Background: Empty sella (ES), the herniation of the subarachnoid space within sella associated with a variable flattening of the pituitary gland, is classified as primary (PES) or secondary (SES) on the basis of etiological factors.Aim: To assess the differences between PES and SES in terms of pituitary function.Methods: Clinical, radiological and hormonal data were retrospectively extrapolated from the records of 85 patients with ...

Background: AGHD is a recognized clinical entity, but symptoms are quite nonspecific; the lack of objective tools able to measure patients’ health status remains the main barrier in clinical monitoring and treatment.Aim: The MAGHD Study aims improving AGHD patients’ management through a Smartphone app (MAGHDApp) and a fit-watch integrated with a software framework able to merge daily data of patients’ well-being and physical activity with ...

Introduction: Follicular thyroid carcinomas (FTC) are the second most common type of thyroid malignancy. Micro-RNAs (miRNAs) are a new class of small, noncoding RNAs whose expression is deregulated in many types of human cancers and may lend novel clues to FTC genesis. Pre-miR146a represents one of the most up-regulated miRNAs in papillary thyroid carcinomas (PTC) and a SNP (rs2910164), identified in pre-miR146a, contributes to genetic predisposition to PTC, but data on FTC ar...

Introduction: The mechanism underlying the development of follicular thyroid carcinoma (FTC), the second commonest thyroid tumor, is still unknown. An interesting hypothesis is that changes in the expression of multiple regulatory RNA (miR) genes may be a major mechanism in thyroid carcinogenesis. For example, several studies suggested that SNP rs2910164 in the pre-miR146a, a precursor of miR146a, might be correlated to papillary carcinoma. The aim of this study was the evalua...

We present a novel heterozygous compound inactivating mutation of the CYP19A1 (P450arom) gene in a 26-year-old 46-XY Caucasian Italian male leading to aromatase deficiency. The patient phenotype resembled those observed in the other estrogen-deficient patients: tall stature with continuing linear growth, bilateral genu valgum, unfused epiphyses and delayed bone age, osteopenia. A dysmetabolic syndrome characterized by overweight (BMI 29), hyperinsulinaemia, low serum HDL and i...

Background: AGHD significantly impacts on metabolism, body composition and quality of life (QoL), including sexuality.AIM: To investigate the impact of a smartphone App on AGHD monitoring, especially QoL and comorbidities as well as on both body composition and biochemical parameters.Methodology: 83 AGHD patients were enrolled in this prospective, open-label, monocentric study (MAGHD Study) of 24-month duration. Patients were evalu...

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends and plays a role in cellular senescence, being repressed in postnatal somatic cells. Mutations C228T and C250T of the telomerase reverse transcriptase (TERT) were recently reported in human cancers. In thyroid cancer, TERT mutations are more frequent in aggressive histotypes, but very few data are available about the potential correlations with clinical features in papillary and follicular thyroid cancer...