Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited endocrine tumor syndrome characterized by development of cancer in various endocrine organs, particularly in pituitary, parathyroid and pancreas. Moreover, in some cases, also non-endocrine tumors can be diagnosed, developing atypical phenotypes.Case report: We report herein the clinical history of a patient affected by MEN-1 syndrome who developed atypical feat...

Introduction: Approximately 25% of medullary thyroid cancer (MTC) cases arise in a familial setting, either as MEN2 or fMTC. While most of these are caused by mutations in the RET gene, a few families have unidentified mutations. Recently, a frameshift mutation in the ESR2 gene (coding oestrogen receptor beta) was found in a family with RET-negative fMTC associated with C-cell hyperplasia. In vitro, transfection of mutant ESR2 led t...

Introduction: The PAOLA study in patients with inadequately-controlled acromegaly (n=198) demonstrated superior efficacy of pasireotide long-acting release (LAR; 40 mg/60 mg) in biochemical control (GH <2.5 μg/l and normalized IGF-1) vs continued treatment with octreotide LAR 30 mg/lanreotide Autogel 120 mg (15.4% and 20.0% vs 0%). Here we report preliminary data from the extension phase of PAOLA at wk28.Methods: Pasireotide-LAR (40 mg/...

Background: Pegvisomant(PegV) and Pasireotide LAR(Pasi) are commonly used in acromegaly patients resistant to first-generation SRLs. Predictors of response to therapy with PegV and Pasi in this subset of patients are still unclear. These findings may be useful in choosing the most appropriate therapeutic option for the personalized treatment of patients affected by more aggressive disease. We aimed to identify individual predictors of responses.Methods: ...

Pasireotide (PAS) has a safety profile similar to first-generationsomatostatin analogues (SSA), except for a higher frequency of hyperglycaemia-related adverse events (AEs). However, consensus on the best management of PAS-induced hyperglycaemia in acromegalic patients has still to be defined. The current study aims at investigating the effects of long-term PAS treatment on glucose metabolism, by evaluating the clinical management of hyperglycemia-relatedAEs in acromegalic pat...

Introduction: To date, two pharmacogenetic studies investigated the effect of the common exon 3 deletion of GH receptor (d3-GHR) variant in small series of acromegalic patients treated with Pegvisomant (Peg), suggesting an association of d3-GHR allele with better response to Peg.Aim: To assess the influence of d3-GHR variant in a large cohort of acromegalics with active disease and resistance to somatostatin analogues (SSA) treated with either Peg monoth...

Aim of this study was to evaluate lipid profile and the severity of GHD, in a large group of TBI patients with or without GH deficiency. We assayed lipid profile (Total-, HDL- Cholesterol, Triglycerides) in 62 TBI subjects 12 months after TBI (41 M, 21 F, 13–81 yrs, BMI: 24.6±0.6 kg/m2), and in 62 sex-, age- and BMI-matched controls. Based on the GH peak after GHRH+ARG test, patients were stratified as: 1) severe GHD (GH peak ≤ 9 μg/l; <i...

Osteopathy is an emerging complication of acromegaly, characterized by increased bone turnover, profound abnormalities in trabecular bone structure and high risk of vertebral fractures (VFs). The therapeutic management of skeletal fragility in acromegaly is a challenge, since the risk of fractures may remain high after the control of acromegaly and the effectiveness of bone-active drugs in this clinical setting is unknown. In this retrospective-multicenter study, we aimed at e...

Cytological evaluation establishes the diagnosis of a benign or malignant nodule in 70–80% of all cases, but the remaining cases lack the features needed for a definitive diagnosis. Molecular tests have been developed to assist in determining if a nodule with indeterminate cytology is benign or malignant. The first studies focused on the analysis of the most common thyroid cancer (TC) mutation, BRAFV600E. However, since many TCs are driven by other mutations, testing for ...

The evaluation of a thyroid nodule is a very common clinical problem and fine needle aspiration biopsy (FNAB) is the only test that can provide a definitive preoperative diagnosis of malignancy. The sensitivity and specificity of FNAB are limited by aspirates that yield insufficient material for definitive diagnosis and those with indeterminate diagnoses, which can account for up to 30–40% of all specimens. The detection of several novel gene mutations in differentiated t...