Endocrine Abstracts

Background: Sympathetic pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors associated with excess catecholamine production. Routine biochemical and imaging surveillance to monitor for recurrence and metastasis is recommended. However, there is limited data describing optimal surveillance approaches and post-operative biochemical thresholds for detecting recurrences or metastases. This study sought to correlate biochemical and imaging surveillance with ...

Background: Metastatic pheochromocytomas and paragangliomas are rare neuroendocrine tumors with limited treatment options. We studied the efficacy and safety of off-label High-Specific-Activity I-131-meta-iodobenzylguanidine (HSA-I-131-MIBG) in routine clinical practice. Methods: This is a retrospective cohort study. The primary endpoint is objective response rate (ORR) as per RECIST v1.1. Secondary endpoints are blood pressure control, safety, overall a...

Aim: To evaluate the effect of PPARG2 Pro12Ala, TNFα G(308)A and G(238)A, LIPC C(-514)T, ACE I/D, SLCO1B1 Val174Ala polymorphism on the response to statins therapy in patients with type 2 diabetes mellitus (T2DM).Methods: We consecutively recruited patients with type 2 DM requiring lipid-lowering therapy according to current guidelines. Patients were started on either atorvastatin 10 or 20 mg. After 12 month of st...

Introduction: Recent data indicate that women affected by the polycystic ovary syndrome (PCOS) are at a greater risk for cardiovascular disease (CVD). The objective of this study was to evaluate the effect of the association ethinylestradiol 30 μg–drospirenone 3 mg (DRP/EE30 μg) plus metformin and weight loss on surrogate markers of CVD in PCOS.Methods: Twenty-five young women with PCOS (mean age 22.76±0.83 years, body mass index (BMI...

Background: Metastatic pheochromocytomas and paragangliomas are orphan neuroendocrine tumors. 50% of these tumors are associated with germline mutations of the SDHB gene. SDHB related pheochromocytomas and paragangliomas and many apparently sporadic tumors exhibit abnormal angiogenesis. This trial assessed the efficacy and safety of Cabozantinib, a potent, antiangiogenic, tyrosine kinase inhibitor. Methods: The Natalie trial is a single arm phase 2 clini...

In this study we employed a novel bioluminescence resonance energy transfer (BRET) biosensor to study the coupling specificity of somatostatin receptor 5 (SST5) and its naturally occurring mutant R240W in living cells. Our previous data demonstrated that SST5 carrying the R240W mutation as well as other mutations in the third intracellular loop maintained the ability to inhibit intracellular cAMP levels similarly to the wild-type but failed to mediate the inhibition of intrace...

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH independent adrenal Cushing’s syndrome. A 32-year-old female with atrial myxomas was found to have Carney’s complex (PRKAR1A mutation negative). Screening showed biochemical Cushing’s syndrome (24 h urine free cortisol 918 nmol – nr 100–400) and the characteristic paradoxical increase in UFC during the 48 h dexamethasone suppression test was confirmed: 24 h UFC pre-dex 340...

Kallman’s syndrome is a abroad term which refers to association of olfactory alterations and idiopathic hypogonadotropic hypogonadism and it is responsible for approximately 50% of all cases of idiopathic hypogonadotropic hypogonadism. It is classically associated with KAL1 gene mutation. However, it is not caused by this single gene alone, but multiple genes have been found associated. We present a 31-year-old male Nurse with CHD7 associated Kallman’s syndrome. He w...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that maintains systemic calcium homeostasis by detecting alterations in extracellular calcium, which it transduces into signalling changes, mainly via the Gq/11 pathway, leading to a decrease in PTH secretion. The importance of CaSR is highlighted by studies of patients that harbour germline CaSR mutations, which lead to a gain of receptor function in autosomal dominant...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that maintains systemic calcium homeostasis by detecting alterations in extracellular calcium, which it transduces into signalling changes, mainly via the Gq/11 pathway, leading to a decrease in PTH secretion. The importance of CaSR is highlighted by studies of patients that harbour germline CaSR mutations, which lead to a gain of receptor function in autosomal dominant...