Endocrine Abstracts

Familial isolated growth hormone deficiency is exceedingly rare. We present two siblings of non-consanguineous parents with this syndrome and describe their response to growth hormone therapy. We have also carried out a mutational analysis of their GH1 and GHRH-R genes.A mutation scan of the entire coding region and flanking intronic sequences of GH-1 and GHRH-R was undertaken in both index cases and parents. GH1 and GHRH-R mu...

The most common cause of primary hypothyroidism is Hashimoto’s disease, while the most common cause of hyperthyroidism is Graves’ disease; both conditions are autoimmune diseases. In clinical practice, the switch from hypothyroidism to hyperthyroidism is a rare phenomenon. So far, the etiology and mechanisms of conversion have not been determined. We present a case where we believe the monoclonal antibody rituximab was the primary cause of transition. A 58-year-old m...

Introduction: Adequate thyroid hormone availability during early life is crucial for normal child growth and development. Fetal growth in utero heavily depends on angiogenesis. Placental growth factor (PlGF) is a proangiogenic factor sharing high homology with vascular endothelial growth factor (VEGF) whereas soluble FMS-like tyrosine kinase-1 (sFlt1) is a potent antagonist of VEGF and PlGF signaling. Since the thyroid is a highly vascularized organ, we hypothesized t...

Introduction: Ghrelin is a potent orexigenic brain-gut peptide with lipogenic and diabetogenic effects, possibly mediated by GHS-R. Cannabinoids also have orexigenic and lipogenic effects. AMPK is a regulator of energy homeostasis and we have previously shown that ghrelin and cannabinoids stimulate hypothalamic AMPK activity while inhibiting it in liver and adipose tissue, suggesting that AMPK mediates both the central appetite-inducing and peripheral effects of ghrelin and ca...

BAFF, a member of the TNF family, promotes autoantibody production by increasing B cell survival and proliferation. We have previously shown that serum BAFF concentrations are increased in GD patients. In the present work, we studied the expression of BAFF and BAFF-R, by immunohistochemistry (IHC) on paraffin embedded sections of: 1. orbital adipose tissue from 22 patients (5 men, 17 women) with GO (3 of them with active GO) associated with GD or Hashimoto thyroiditis in 19 an...

Objectives: Somatostatin (SST) inhibits insulin secretion from pancreatic B-cells through a reduction of intracellular free calcium ([Ca2+]i). The influx of Ca2+ is mediated by voltage-operated Ca2+ channels (VOCCs). The role of VOCCs of the R-type (CaV2.3) in SST-mediated processes is unknown. Therefore, we designed a study to identify SST-receptor subtypes (SSTR) in insulinoma cells (INS-1) and characterize the role of t...

Congenital adrenal hyperplasia (CAH) is a genetic disorder arising from defective steroidogenesis resulting in glucocorticoid deficiency; the commonest mutation is in the gene encoding 21-hydroxylase. Lifesaving glucocorticoid treatment was introduced in the 1950s and there is now an enlarging cohort of adult patients; however, there is no consensus on management. To address this issue, the Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) was formed in 2003 to stu...

CAH is the commonest inborn endocrine disorder and associated with significant morbidity. The health status of CAH adult patients has recently been reported by the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive, CaHASE (Arlt et al. JCEM 2010 95 5110–21). Compared to the health survey for England, metabolic abnormalities were common in adult patients with CAH: obesity (41%), hypercholesterolemia (46%), insulin resistance (29%), ost...

In chronic diseases patient (pat) often need continuous med treatment. In acromegaly and neuroendocrine tumors (GEP-NET), long term monthly injections of somatostatin analogues as Sandostatin® LAR® (SA®) are the treatment of choice. Problems regarding pat management and drug application might arise in not-specialized centers such as general practicioners (GP). To optimize pat’ management and compliance a homecare project* wa...

Background: Increasing age is associated with poorer survival in DTC [Oyer SL, 2012]. In the phase 3 COSMIC-311 trial (NCT03690388), cabozantinib, an inhibitor of VEGFR2, MET, AXL and RET, significantly improved the progression-free survival (PFS) vs placebo in previously treated patients with RAI-R DTC (HR 0.22, 96% CI 0.13-0.36; P<0.0001; median follow-up 6.2 months). The impact of age on efficacy and safety was included in the prespecified subgroup analysis.</p...