Endocrine Abstracts

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...

Introduction: Pituitary incidentalomas are lesions discovered on an imaging study performed for an unrelated reason. Their frequency varies among 0.2–38% and it is continuously increasing due to the development of neuroimaging techniques. The aim of the study is to investigate clinical and biochemical characteristics of 205 consecutive patients (70% female, mean age 53.6±18.2 years) with incidental pituitary adenoma (IPA) followed at our center from 1990 to present.<...

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...

Introduction: A highly polymorphic microsatellite, comprising a variable length of a cytosine–adenosine (CA) repeat sequence, has been identified in the promoter region of IGF-I gene. The number of CA repeats ranges between 10 and 24 and the most common allele in the Caucasian population contains 19 CA (192 bp) repeats. Several studies investigated the relationship between this polymorphism and IGF-I levels, with conflicting results. Aim of this study was to investigate t...

Introduction: Generously supported by IPSEN)-->Acromegaly is a rare and insidious disease associated with an increased morbidity and mortality. Trans-sphenoidal (TNS) surgery remains the primary therapeutic option, in particular for intrasellar microadenomas and noninvasive macroadenomas. Aims of this study were to describe diagnostic features and to verify the impact of TNS surgery on treatment of acromegaly over three decades, befo...