Endocrine Abstracts

Increased secretion of GH results in gigantism in children/adolescents and in acromegaly in adults; the relative roles of the various genetic causes of acromegaly and gigantism are still unclear. To analyse the genetic causes and inherited/familial features in patients with pituitary gigantism, we studied a large international cohort. Genetic or inherited characteristics were observed in 39% of patients and included familial isolated pituitary adenomas (FIPA; n=28), M...

Introduction: Acromegaly is characterised by chronic exposure to high GH and IGF1 levels that leads to increased bone turnover. Regardless of BMD value, acromegalic patients seem to have an increased vertebral fracture risk probably due to a reduction of bone quality. Trabecular bone score (TBS) is a new index used for assessing bone microarchitecture. In this study TBS was used for the first time to analyze bone quality in acromegaly.Methods: 16 new acr...

Introduction: The optimal treatment duration for prolactinomas to minimize reccurences is not clear. 2011 Endocrine Society Guidelines suggested that cabergoline withdrawal may be safely undertaken after 2 years in patients achieving normoprolactinemia and tumor volume reduction.Materials and methods: We analyzed 74 patients (mean age=46.9±14.4, M/F=19/56, macro/micro=18/56) bearing a prolactinoma. Patients were divided in 3 groups: Group A (23) tre...

Endocrine Connections 2013 2 196–207. DOI: 10.1530/EC-13-0049...

Klinefelter syndrome (KS) is a frequent form of male hypogonadism that may be associated with a series of comorbidities potentially affecting quality of life and survival. As a matter of fact, KS was shown to negatively impact skeletal health. However, the studies so far published on this topic were mainly focused on evaluation ofbone mineral density (BMD) and bone microstructure, whereas data on fracture risk are still lacking. In this cross-sectional study, we evaluated for ...

Chronic exposure to GH hypersecretion may alter the physiological balance of the spine through inducing degeneration of intervertebral discs and impaired trophism of facet joints. Moreover, GH in excess may also cause profound deterioration in bone microstructure with consequent increase in risk of fragility vertebral fractures (VFs). In this cross-sectional study,we evaluated for the first time in acromegaly the association between spine imbalance and VFs. Thirty-eight patien...

Background: Pituitary tumors are mostly sporadic, but in less than 5% of cases they can be associated to genetic syndromes, so harbouring germline mutations. Familial pituitary tumors are often more aggressive, so it’s important to detect them, for both a better early diagnosis and genetic counselling. Before the development of Next-Generation Sequencing (NGS), Sanger sequencing was the most widely used method of DNA sequencing. Therefore, DNA samples were analysed follo...

Introduction: Hypotonic hyponatremia is frequently observed after pituitary surgery. In this context, use of vasopressin V2-receptor antagonists is not standardized. The aim of this retrospective study is to explore the role of Tolvaptan in the management of acute hyponatraemia after pituitary surgery.Methods: We collected clinical, safety and efficacy data of patients treated with Tolvaptan after pituitary surgeryin our Centre between April 2011 and Feb...

Introduction: Klinefelter syndrome (KS) is known to be associated with an increased risk of venous thromboembolism and arterial thrombosis, but the aetiology behind this prothrombotic status has not been fully elucidated. The aim of this study was to cross-sectionally investigate the coagulative state in subjects with KS compared to age-matched healthy males.Methods: Coagulation factors assessment, clinical characteristics collection and thrombin generat...

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...