Endocrine Abstracts

Background: 20% of the familial isolated pituitary adenoma (FIPA) population harbour an aryl hydrocarbon receptor-interacting protein (AIP) gene mutation. The recognition of whether a variant is pathogenic can be difficult, in cases where the observed change does not lead to a truncated protein. Segregation with disease in a family, in silico predictions, loss of heterozigosity in the tumour, in vitro functional studies and screening of the variant in controls may help in asce...

Introduction: Three peptides, acylated ghrelin (AG), unacylated ghrelin (UAG) and obestatin are derived from a common prohormone, preproghrelin by posttranslational processing, originating from endocrine cells in the stomach. Circulating ghrelin levels are decreased in obese subjects and increased by fasting and in patients with anorexia nervosa, but the physiological role of the three peptides is poorly understood in particular in childhood.Aim: In orde...

Patients (pts) with adrenal incidentaloma (AI) may show an increased incidence of several cardiovascular risk factors, as obesity, hypertension, diabetes mellitus and dyslipidemia. As previous data suggested that the increased cardiovascular risk in these pts could be in part mediated by alterations of adipokines, this study was aimed to evaluate plasma IL-6, resistin, CT-1 levels in a wide series of pts with AI.Ninety-three pts (42 males; 51 females; ag...

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: Severe GH deficiency (GHD) is associated with, increased cardiovascular (CV) risk and intima-media thickness (IMT) at major arteries.Objective: To investigate the long-term (5-years) effects of GH replacement on insulin resistance (IR) syndrome (IRS) (at least two of: triglycerides levels ≥1.7 mmol/l, HDL-cholesterol levels ≤1.0 mmol/l, blood pressure above 130/85 mmHg, fasting glucose 6.1–7 or 2 h after glucose 7.7–11.1...

Objective: The metabolic syndrome (MS) is characterized by a marked sympathetic activation. Whether this adrenergic overdrive is mainly dependent on the obese state or it can be detected also in absence of obesity is unknown, however.Design and Methods: In 25 male patients (age 41.4±yrs., mean±S.E.M.) with MS (ATP III criteria) and in 12 age-matched healthy male controls, we measured body mass index (BMI), waist circumference (WC...

TU is an effective option for androgen replacement in FtM subjects, but long-term physiological effects and the significance of T and its metabolites dihydrotestosterone (DHT) and estradiol (E) on physiological functions are unclear. The aim of our study was to investigate the effects of long-term TU treatment on bone metabolism, body composition and lipid profile in FtM subjects and to evaluate the relationship between the observed effects and circulating levels of T, E and D...

Background: Cushing’s syndrome results from chronic exposure to excessive levels of glucocorticoids (GC). The clinical manifestations associated with hypercortisolaemia are variable and differ widely in severity, including hypertension, apparent obesity and metabolic aberrations such as diabetes, dyslipidaemia, ultimately leading to changes similar to the metabolic syndrome. We hypothesised that GC might influence the expression of the genes involved in lipogenesis and gl...

Aim of this study was to evaluate the impact of rhGH treatment on glucose and lipid metabolism in in 26 patients (17M and 9F, age 47.0±11.1 years) with adult onset GH deficiency. Metabolic parameters (fasting glucose and insulin, glycated haemoglobin, lipid profile, body composition, OGTT) and indices of insulin resistance (IR) and sensitivity (IS), i.e. homeostasis model assessment (HOMA-IR and derived ISI-HOMA), quantitative insulin check index (QUICKI), ISI-composite, ...

ObjectivePolicystic ovary syndrome (PCOS) is a multifactorial disease characterized by reproductive and metabolic impairments. PCOS patients could present anovulation, hirsutism and infertility as well as higher prevalence of metabolic syndrome, glucose intolerance and diabetes. Insulin-resistance (IR) together with hyperandrogenism represent the main players, with reciprocal influences in a vicious circle: insulin promotes androgen secretion in thecal c...