Endocrine Abstracts

Background: Germline pathogenic or likely pathogenic (P/LP) variants occur in approximately 10% of NEN patients with recent data suggesting a higher frequency in pancreatic NENs or paraganglioma/pheochromocytoma (PPGL). However, identification of VUS can complicate interpretation of germline results, particularly when diverse populations are under study and the optimal gene panel size for testing remains unclear.Methods: A single-center retrospective cha...

Background: Changes of the gut microbiota may impact on the mechanisms of immune tolerance in Graves’ disease (GD) and Graves’ orbitopathy (GO). Probiotics, which contain live micro-organisms, can modify the composition of the gut microbiota.Aims: We tested in a double-blind randomized placebo controlled trial whether the administration of a well-characterized, commercially available, probiotic would 1) modify the microbiota composition in GD/G...

Introduction: Patients with unilateral primary aldosteronism (PA) can be cured with adrenalectomy, and adrenal vein sampling (AVS) remains the gold-standard test. However, AVS is invasive, technically-challenging and criteria for determining lateralization differ between centres. 11C-Metomidate PET/CT (MTO) imaging offers a promising non-invasive alternative for identifying unilateral PA.Methods: All patients with confirmed primary aldosteronism who were...

Background: Pasireotide has proven efficacy in acromegaly and CD, although pasireotide-associated hyperglycaemia occurs in some patients. This Phase IV, randomized, open-label study investigated optimal management of pasireotide-associated hyperglycaemia uncontrolled by metformin/oral antidiabetic therapy (OAD) [NCT02060383].Methods: Adults with acromegaly or CD were enrolled and treated with long-acting pasireotide 40 mg/28 days or subcutaneous pasireot...

Introduction: Autoimmune polyendocrine syndrome 1 (APS1) is an uncommon, serious autosomal recessive disorder, due to AIRE gene mutations which result in impaired central tolerance. India has a complex genetic structure and also communities with high prevalence of consanguinity, which may result in varied clinical manifestations and genetic mutations.Aims: To study clinical features, interferon-α antibodies (IFNA), AIRE mutations, ...

The role of the thyrotropin receptor (TSHR) in bone is unclear. TSHR-deficient mice have low bone mineral density (BMD) and focal osteosclerosis despite normal thyroid hormones (suggesting TSHR function, in bone, is important). Subclinical hypothyroidism (SH) has various aetiologies including thyroid autoimmunity (TA) and inactivating TSHR mutations (TSHR-M). In TSHR-deficiency & TSH-M elevated TSH compensates for reduced TSHR function, whereas in TA it compensates for red...

Introduction: We recently reported cases of segmental overgrowth due to mosaic heterozygous activating mutations in the p110α catalytic subunit of PI3K. The index case presented with life-long, massive overgrowth of both legs with a lean upper body. Mobility was threatened by continued growth. mTORC1 inhibition has been effective at slowing excess growth due to loss of PTEN function, a negative regulator of PI3K. We hypothesised that mTORC1 inhibition would also be effect...

Objective: Bisphenol A (BPA) exposure may promote obesity, but its effect on bone mineral density (BMD) has not been reported in humans. In the present study, we aimed to examine the complex interplay between BPA exposure, fat mass, fat-free mass, serum estradiol, leptin, osteocalcin levels and BMDs in a group of premenopausal women.Methods: A total of 246 Chinese premenopausal women aged 20 years and older with regular menstrual cycles were investigated...

The contractile RhoA/Rho-kinase (Rock) signalling pathway is up-regulated in penile tissue in animal models of experimental diabetes and has been proposed to contribute to diabetes-related erectile dysfunction (ED). In previous studies we demonstrated that testosterone (T) restores diabetes-induced ED by influencing the NO/cGMP/PDE5 pathway.AimTo investigate the effect of T on the RhoA/Rock signalling in course of diabetes.MethodsWe used two distinct animal models of chemical ...

Objectives: Radical prostatectomy is an effective therapy for clinically localized prostate cancer. A significant number of men develops post-prostatectomy erectile dysfunction (PPED), due to surgery-related nervous damage. PPED is relatively refractory to PDE5i therapy. In a rat model of bilateral cavernous neurotomy we evaluated whether chronic tadalafil treatment (CTT) could ameliorate anatomical and functional damage to corpora cavernosa (CC).Methods...