Endocrine Abstracts

Background: Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, suggesting that inheritance is conferred by a small number of genes. However, the underlying genetic background is mostly unknown. By comparison, many genes have been identified where loss-of-function mutations lead to hypogonadotropic hypogonadism (HH). Despite likely overlap between the pathophysiology of delayed puberty and conditions of GnRH deficiency, few studies have examine...

Background: Disturbances of pubertal timing affect >4% of the population and are associated with adverse health outcomes. Studies estimate 60–80% of variation in pubertal onset is genetically determined, but few genetic factors are known. We hypothesise that causal variants will be low-frequency, intermediate-impact variants and will be enriched in populations at the extremes of normal pubertal timing. Families with constitutional delay in growth and puberty (CDGP) ha...

Cabergoline has been recently demonstrated to normalize cortisol secretion in more than one third of patients with Cushing’s disease (CD). The aim of this study was to evaluate short-term (3-months) and long-term (12-24 months) effects of cabergoline treatment on the main systemic complications of CD, including hypertension, glucose intolerance and dyslipidemia. Twenty patients with CD unsuccessfully treated by neurosurgery entered the study. Cabergoline was admistered at...

Background: Childhood growth is an indicator of health/well-being. Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objective: Develop and test the accuracy of GrowthMonitor, an app which enables families to measure a child’s height at home as a cost-effective alternative...

Introduction: Pancreatic neuroendocrine neoplasms (PNEN) present with a fibrotic stroma which constitutes the tumor microenvironment (TME). The role played by stromal fibroblasts over the growth of PNEN and their sensitivity to the mTOR inhibitor, RAD001, are as yet unestablished.Methods: We investigated reciprocal interactions between 1) human PNEN cell lines (BON-1/QGP-1) or primary cultures of human ileal neuroendocrine neoplasm (iNEN) or PNEN, and 2)...

Background: Pregnancy does not cause differentiated thyroid cancer (DTC) recurrence in patients without structural or biochemical evidence of disease at the time of conception. However, data regarding pregnancy’s impact in patients with persistent DTC before conception are still controversial.Aim: The aim of the study was to determine whether pregnancy could significantly influence the outcome in DTC patients in persistence before pregnancy, but wit...

The management of loco-regional metastases in patients with differentiated thyroid carcinoma is still debated. Current American Thyroid Association guidelines state that in this context the main goal is to differentiate between low-volume metastatic disease that will progress and that remaining stable over time.Aim of our study was to evaluate the behavior of suspicious or cytologically confirmed lymph node metastases, detected after initial treatment (i...

Radioiodine refractory differentiated thyroid cancer can be effectively treated with multi-tyrosine-kinase inhibitors (mTKI). Due to their pleiotropic mechanism of action, these drugs may cause different side effects. Hypocalcaemia has been reported in up to 35% of patients treated with mTKI, but little is known about its pathophysiology and clinical relevance. We report the case of a 78 years old woman treated for a multifocal papillary thyroid cancer, infiltrating perithyroi...

Background: Fatigue is one of the most frequently reported adverse events in patients treated with multikinase inhibitors (MKIs). It is present in about 59% and 24% of patients treated with lenvatinib and vandetanib, respectively, associates with a decreased quality of life and often leads to treatment discontinuation. In 2018, for the first time, a correlation between fatigue and primary adrenal insufficiency (PAI) was demonstrated in 12 patients treated with lenvatinib and v...

Objectives: Lenvatinib treatment is responsible for several adverse events (AEs). Hypocalcemia has been described in the registration study in 7% of patients, being of grade ≥3 in 2.7% of cases. No real-life studies are available, and the actual impact of this AE during Lenvatinib treatment is still unknown. Aim of our study is to evaluate the frequency of hypocalcemia in our series of patients treated with Lenvatinib and the possible predictors of this side effect.<...