Endocrine Abstracts

Introduction: Klinefelter syndrome (KS) is generally characterized by late adolescence/young adulthood onset of primary hypergonadotropic hypogonadism. Fourteen cases have been previously reported on apparently unexplained isolated hypogonadotropic hypogonadism (IHH) in KS. Gonadotropins defect was variably associated with anosmia or other pituitary hormones deficiencies, but no cause could be clearly identified to explain the central defect. We describe the clinical and genet...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor of the parafollicular thyroid C cells. Although somatostatin (SS) receptors (SSTs) are expressed by MTCs, treatment with octreotide, specific for SST2, has shown poor efficacy in reducing MTC proliferation, whereas pasireotide, a multi-receptor SS analogue with preferential binding to SST5, has recently demonstrated antiproliferative effects in persistent postoperative MTCs. In vitro data in human MTC ce...

TNM 8th edition introduces changes in the staging of patients with differentiated thyroid carcinoma (DTC). This study aims at assessing the ability of TNM 8th edition in predicting structural recurrence of DTC.480 DTC patients were retrospectively evaluated by 7th and 8th editions of TNM staging systems in relationship with risk stratification, response to therapy and recurrence of disease as defined by 2015 American Thyroid Association (ATA) guidelines. As compared to the 7th...

Generously supported by IPSEN)-->A highly polymorphic microsatellite in the IGF-I gene promoter composed of variable cytosine–adenine (CA) repeats (n=10–24) has been linked to IGF-I levels, risk of diabetes and cardiovascular diseases with conflicting results. Aim of this study was to investigate the impact of this polymorphism on the response to rhGH (mean dose 0.34±0.14 mg/day) in adult GH-deficient (GHD) pa...

Radiation therapy is a useful adjuvant tool for the management of difficult acromegalic patients. Its effects on cardiovascular morbidity are still unknown. Aim of the study was to investigate the long-term effects of radiotherapy on metabolic parameters and cardiovascular risk factors.A total of 42 acromegalic patients (11 M and 31 F, age: 55±12 years, RT group), cured after conventional RT (CRT, n=31) or radiosurgery by gamma-knife (GKRS, <...

A high risk for small bowel (SB) tumors in acromegalic population has been reported in a cohort study (Baris D, 2002). SB lesions may be easily investigated by the recently developed videocapsule endoscopy (VCE). Aim of the study was to assess the prevalence of SB neoplasms by VCE in 14 acromegalic patients (Ac) in respect to 30 sex and age-matched control subjects and to correlate it with cancer risk factors and acromegaly-related parameters. Local Ethical committee approved ...

Background: The d3-growth hormone receptor (GHR) polymorphism is a common variant characterized by genomic deletion of exon 3 (d3) of the GHR gene. It could be linked to a better growth response to GH, but the findings are controversial. Due to the lack of IGF-I feedback on the tumoral GH secretion, acromegaly seems to be a good model to study functional characteristics of this polymorphism. Aim of the study was to investigate possible influences of d3-GHR on GH and IGF-I rela...

Cushing’s Disease (CD) is a rare condition mostly caused by an ACTH-secreting pituitary tumor resulting in excess of cortisol release by the adrenal glands. Although pasireotide is the only pituitary-targeted drug approved to treat adult patients, many side effects are encountered during the clinical practice and a curative therapy for CD is still challenging. Recently, the discover of somatic mutations in the deubiquitinase USP8 gene in a subset of patients has ...

BackgroundSerum B cell stimulating factor (BAFF) has been shown to be elevated in Graves’ disease (Vannucchi 2012). In addition, BAFF and its receptor have been shown to be expressed on lymphocytes infiltrating the thyroid in Graves’ disease and also on thyrocytes (Campi 2015).AimsWe tested in a single-blind randomized controlled trial (EudraCT 2015–002127–26) whether the administration ...

Cushing’s Disease (CD) is a rare condition characterized by an overproduction of ACTH by an ACTH-secreting pituitary tumor resulting in excess of cortisol release by the adrenal glands. Somatic mutations in the deubiquitinases USP8 and USP48, and in BRAF genes, have been reported in a subset of patients affected by CD. Aim of this study was to characterize the genetic profile of a cohort of 66 patients with ACTH-secreting tumors, searching for somatic mutations in USP8, U...