Endocrine Abstracts

Thyroid hormones play a key role in cellular growth, development, and metabolism, and are known regulators of gene expression through genomic and non-genomic processes including DNA methylation. Using eight cohorts from the ThyroidOmics-Consortium and a standardized meta-analysis quality control pipeline, we conducted an epigenome-wide association study between blood-based leucocyte DNA methylation sites and thyroid hormones (TSH, free T3 and free T4) in up to 7,073 participan...

Primary ovarian insufficiency (POI) affects 1% of women before age 40 years, and in 70-90% of cases is defined as idiopathic. Although numerous POI-associated genes have been identified in recent years, the prevalence and pathogenicity of individual rare gene variants is still difficult to establish. The aim of our study was to retrospectively analyze the correlation between genotype and phenotype in patients with idiopathic POI, providing a more detailed characterization of P...

Background: In patients affected by type 2 diabetes mellitus (T2DM) a high prevalence of hypogonadotropic hypogonadism (HH) has been reported, even if there is no consensus on its pathogenic mechanisms. In addition to acquired causes, an individual predisposition has also been suggested. The understanding ofPurpose: The aim of this observational study is to assess: (1) the prevalence of hypogonadism in T2DM using the validated criteria from the EMAS stud...

Background: Pituitary apoplexy (PA) is a rare endocrine and neurosurgical syndrome characterized by pituitary hemorrhage/infarction. SARS-CoV-2 infection and vaccination have been described as possible risk factors for PA, but the real impact of COVID-19 burden on PA epidemiology is still unknown.Purpose: To investigate the incidence of PA in the pandemic period during exposure to SARS-CoV-2 infection and vaccination and possible peculiar clinical charac...

Background: The recommended first-line screening tests for Cushing’s syndrome (CS) are serum cortisol after 1-mg dexamethasone suppression test (FDST), urinary free cortisol (UFC), and late-night salivary cortisol (LNSC). CS is often diagnosed late: the clinical presentation of endogenous hypercortisolism overlaps with common clinical conditions.Methods: We analyzed the diagnostic test accuracy of FDST, UFC, and LNSC in patient...

Background: Liver fibrosis is the result of the chronic hepatocyte damage due to different causes. Among them, Non-alcoholic Fatty Liver Disease (NAFLD) is estimated to account for nearly 30% of cases, representing a leading cause of chronic liver disease. NAFLD can evolve into non-alcoholic steatohepatitis, with or without fibrosis, whose diagnosis requires a liver biopsy, a costly and invasive procedure. Non-invasive tests have recently been proposed to screen patients at ri...

Background: LC-MS/MS is replacing immunoassays for serum steroid measurement in clinical labs worldwide. The intrinsic high specificity of LC-MS/MS is supposed to guarantee accurate quantitation, however, differences in pre-analytical and analytical procedures, and overall performance may influence the result. A few studies so far investigated the reproducibility among different LC-MS/MS assays for sex steroids. No data are available for adrenal steroids.<p class="abstext"...

The precise development of the Gonadotropin Releasing Hormone (GnRH) neurons is essential for the proper function of the hypothalamic-pituitary-gonadal axis, as GnRH is the master regulator of reproductive functions in vertebrates. Mutations in genes involved in the development of GnRH neurons are associated with Congenital Hypogonadotropic Hypogonadism (CHH), a heterogeneous genetic disorder characterized by hypogonadism, lack of puberty onset, and infertility, which is named...

Introduction and aims: Primary Hyperparathyroidism (PHPT) is a common endocrine disease associated with hypercalcemia and elevated or inappropriately normal serum levels of PTH. Among PHPT manifestations, neuropsychological symptoms have been described, including depression, anxiety, loss of memory, impaired cognition, with a wide range (3-50%) depending on the study population. Neuropsychological/ccognitive symptoms in patients with PHPT have been evaluated as part of quality...

Background: AGHD is a recognized clinical entity, but symptoms are quite nonspecific; the lack of objective tools able to measure patients’ health status remains the main barrier in clinical monitoring and treatment.Aim: The MAGHD Study aims improving AGHD patients’ management through a Smartphone app (MAGHDApp) and a fit-watch integrated with a software framework able to merge daily data of patients’ well-being and physical activity with ...