Endocrine Abstracts

Since the first description of pseudohypoparathyroidism (PHP) a remarkable clinical variability was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities. PHP and related disorders vary in clinical presentation and disease severity, and clinical features usually deve...

Background: Polycystic Ovary syndrome (PCOS) is the most common endocrine disorders in women of reproductive age whose lifestyle approach is an essential part of the treatment. Recently chronotype, i.e. a trait that determines individual’s circadian preference in behavioral and biological rhythms, has been reported to play a role in determining nutrition preferences and the risk of developing chronic diseases. Thus, the aim of the study was to investigate if chronotype ca...

Very Low-Calorie Ketogenic Diet (VLCKD) is currently a promising approach for the treatment of obesity. However, little is known about the side effects since most of the studies reporting them were carried out in normal weight subjects following ketogenic diet for other purposes than obesity. Thus, the aims of the study were: 1) to investigate the safety of VLCKD in subjects with obesity; 2) if VLCKD-related side effects could have an impact on its efficacy. In this prospectiv...

Introduction: Glucagon stimulation test is one of the recommended growth hormone provocation tests for diagnosing growth hormone deficiency in children. In adult patients, recent data showed that glucagon administration is able to stimulate the release of copeptin, the stable C-terminal glycopeptide of the AVP prohormone whose evaluation during hypertonic saline infusion represents the gold standard for the differential diagnosis of polyuria/polydipsia. However, similar data o...

Objective: The maintenance of healthy and functional mitochondrial network via mitochondrial quality control (QC) mechanisms, is critical throughout life to respond to physiological adaptations and stress. Due to their role in energy production, mitochondria are exposed to high amounts of reactive oxygen species making their DNA (mtDNA) particularly vulnerable to oxidative damage. Mitochondrial dysfunction causes altered QC mechanisms (i.e. altered biogenesis, dynamics, autoph...

Background: Low bone mineral density (BMD) and reduced sexual satisfaction have been reported in complete androgen insensitivity syndrome (CAIS). Nevertheless, conclusive data on the prevalence and on the optimal management of these conditions are still lacking.Aims: To assess bone and sexual health in adult women with CAIS with and without gonadectomy.Methods: Single-centre, prospective study of 27 adult CAIS (age 35.2±8.7 ye...

Background: Precocious puberty (PP) in girls is most frequently an idiopathic gonadotropin-releasing hormone (GnRH)-dependent PP, being thelarche the typical first sign. It is well established that increased dehydroepiandrosterone sulphate (DHEAS) levels are associated with premature adrenarche and may characterize PP too. However, its relationship with signs of hypothalamic-pituitary-gonadal (HPG) axis activation and oestrogen exposure is still to be elucidated.<p class="...

Introduction: A higher adherence (HA) to the Mediterranean Diet (MD) is associated to a lower risk of developing type 2 diabetes (T2DM). However it is less clear if this is caused by a “food cluster” (FC) or a single MD food effect on the insulin-resistance (IR) and/or on the insulin-secretion (IS).Aim: This study investigated the association between MD adherence, IR and IS, indirectly measured, in subjects affected by obesity without diabetes ...

Context: CHH/KS is a major cause of pubertal and bone maturation delay due to sex steroids deficiency. FH and TH have not been evaluated in large series of CHH/KS patients. Analysis of auxometric measures in patients’ siblings has never been performed.Patients and methods: We selected 216 (164/52 men/women; 112/104 KS/normosmic CHH) with available auxometric measures. Sibling stature was available in a subgroup of 162 patients. Difference between th...

Background: Routine clinical use of arginine-vasopressin (AVP) is limited by its small molecular size and pre-analytical errors. In contrast, copeptin – a peptide of 39 amino acids co-secreted with arginine-vasopressin (AVP) - is a stable protein and its measurement represents a reliable measure of AVP concentration. The aim of this study was to analyze diagnostic role of copeptin in diagnosis of diabetes insipidus (DI) in patients treated for hypothalamic-pituitary disea...