Endocrine Abstracts

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH. R31C GNRH1 is the only missense mutation that affects the conserved GnRH decapeptide sequence. This mutation was identified in a CpG islet in nine nCHH subjects from four unrelated families, giving evidence for a putative ‘hot spot&#...

Introduction: In a Phase III trial, pasireotide LAR was significantly superior (P=0.007) to octreotide LAR at providing biochemical control at 12 months in medically naïve acromegaly patients (post-pituitary surgery or de novo). Inadequately controlled patients (GH≥2.5 μg/l and/or IGF-1>ULN) at the end of core study were eligible for switching therapy (crossover extension). Reported here are efficacy results up to 12 months and safety resu...

Classical somatostatin analogues (SST-A), such as octreotide and lanreotide, bind mainly SSTR2 whilst the multiligand pasireotide binds with the highest affinity SSTR5. The selective immunodetection of ligand binding domain (LBD) of SSTR subtypes with specific monoclonal antibodies may be useful to explain the potential efficacy of different SSTA on pituitary tumours growth and/or secretory activity.Patients and Methods: We applied new monoclonal antibod...

Background: There is growing evidence that ergot dopamine agonists (DA) may induce cardiac valve regurgitation (CVR) in persons with Parkinson’s disease (PD). It is unclear whether the CVR risk is increased with ergot-DA use in persons with hyperprolactinemia, in whom the dose is much lower.Objective: To assess the association between ergot and non-ergot DAs and CVR in patients with hyperprolactinemia and PD.Methods: Nested ca...

The pathogenesis of pheochromocytomas (pheo) is poorly understood and malignant pheo need new treatment options. mTOR inhibitors, as sirolimus (S) and everolimus (E), are new promising antineoplastic drugs.Aim: To evaluate whether the IGF/mTOR pathways have a role in the pathogenesis and whether S and E may have antiproliferative effects in pheo.In 24 human pheo and two normal adrenal medulla (NM), we evaluated the mRNA expression ...

Background: Adrenocortical carcinoma (ACC) is an uncommon malignancy with a still scantily understood pathogenesis and generally poor prognosis. Many patients with ACC need new treatment options. mTOR inhibitors, as sirolimus (S) and temsirolimus (T), are promising antineoplastic drugs in several kinds of tumors.Methods: In three human ACC cell lines (H295, HAC15 and SW13), we evaluated the mTOR and IGF2 expression at mRNA level (by qPCR) and at protein ...

Background: Typing somatostatin receptor (SSTR) expression in neuroendocrine tumors (NETs) is of relevance to target an octreotide-based diagnostic approach and treatment. The expanding use of immunohistochemistry to detect SSTR is to date not paralleled by an accurate methodological setting and standardized interpretation of the results.Objective: A multicentric study was designed to compare SSTR immunohistochemical expression with in vivo scinti...

Chronic exposure to hypercortisolism has a significant impact on patient’s health and Health-Related Quality of Life (HRQoL), as demonstrated with generic questionnaires. Objective: Develop and validate a disease-generated questionnaire to evaluate HRQoL in patients with Cushing’s syndrome-CS- (Cushing QoL). Methods: After a literature review, interviews with expert endocrinologists and 10 patients identified HRQoL domains and clinical aspects of the disease; an anal...

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...

GH hypersection results in biventricular concentric hypertrophy and a progressive contractile impairment whereas cardiac hypotrophy and impaired diastolic filling and left ventricular function have been reported in GH deficiency (GHD). No information on cardiac performances and structure are available about those acromegalic patients in whom successful treatment made their GH and IGF-I secretion similar to those in GHD patients. In order to study the functional and structural ...