Endocrine Abstracts

Introduction: Hypothyroidism is a clinical syndrome resulting from a deficiency of thyroid hormones, which in turn results in a generalized slowing down of metabolic processes. There are consistent reports demonstrating that many diseases, including the thyroid gland dysfunction are associated with changes of serum homocysteine (tHcy) level, with its genetic and epigenetic causes.Case report: In 2018 we reported 51 and 52-year-old sisters diagnosed with ...

Objective: We aimed to identify the genetic defect in patients labelled as sporadic and idiopathic hypoparathyroidism (HP) by using whole-exome sequencing (WES).Methods: Patients with sporadic nonsurgical HP, aged <30 years were recruited. Those with a known genetic or autoimmune aetiology were excluded from the study. Thirty such patients were screened for antibodies against interferon-α, a highly sensitive and specific marker of autoimmune pol...

Background: Metyrapone, osilodrostat, and ketoconazole are steroidogenesis inhibitors used as second-line treatment in endogenous Cushing’s syndrome (CS). However, a direct comparison of these three drmgs is missing.Objective: To compare the efficacy of the three drmgs after short-term therapy (≤12 weeks) for CS.Methods: Multicenter, real-life retrospective study involving 20 centers worldwide. Patients with CS treated w...

Introduction: 7α-Hydroxy-4-cholesten-3-one (C4) is the common intermediary of the primary bile acids (BAs). Its concentration in serum correlates with the rate of activity of hepatic CYP7A1 and therefore with the rate of hepatic BA production. Previous work has smggested a role for BA pool dysregulation in the metabolic syndrome and gut dysbiosis seen in polycystic ovary syndrome (PCOS). However, the mechanism of this is still to be elucidated. Here we report a novel LC-M...

Today there exist no treatment that can improve semen quality in more than 85% of infertile men. Interaction between germ and Sertoli cells is critical for sperm production, and Denosumab, an inhibitor of RANKL, has previously been shown to stimulate sperm production in a fraction of infertile men. Here, we show in a humanized RANKL mouse that Denosumab dose dependently increase germ cell proliferation and testicular weight. RANKL was modified so it can be blocked by Denosumab...

Background: Somatotroph PitNETs represent a polymorph group of GH-secreting pituitary neuroendocrine tumors with great variety of clinical presentation, which may graduate from totally silent without clinical and biochemical signs of hormonal hypersecretion to functioning with subtle or classic acromegaly symptoms. The grade of GH and somatostatin receptors expressoin as well as the other pituitary hormones and receptors co-expression may contribute to the tumor biological beh...