Endocrine Abstracts

Pancreatic neuroendocrine tumours (PNETs) are increasing in incidence, and have a 5-year survival rate of <50%. This is largely because, despite recent advances, current treatments are often ineffective, and therefore additional therapeutic agents are required. Epigenetic inhibitors may offer a novel class of anti-cancer drugs, as PNETs harbour mutations of chromatin remodelling genes including ATRX and DAXX, while menin, encoded by MEN1, interac...

Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and Kallmann syndrome (KS) represent two rare phenotypic presentations of humans with hypogonadotropic hypogonadism secondary to GnRH deficiency. KS/nIHH is genetically heterogeneous and is characterized by incomplete penetrance and variable expressivity. Some genetic variants may play the role of modifier alleles or act as ‘second hits’, providing an explanation of this phenotypic variability. In addition to ...

Cardiovascular disease is the major complication of diabetes that drives mortality and morbidity. Individuals with type 2 Diabetes have a 2-fold increased risk of major cardiovascular events (death, myocardial ischemia and stroke). There is also a 2–4-fold increased risk of heart failure, via mechanisms that are partially independent of underlying coronary disease and myocardial ischemia. Diabetes increases cardiovascular disease via multiple mechanisms including accelera...

Many children have been treated for the diagnosis of GH deficiency during childhood. Having reached final height, it was customary to stop the GH therapy. However, even though final height has been achieved, the adolescent ‘child’ is still in the transition phase as far as peak muscle and bone development are concerned. As this transition period is particularly challenging in adolescents that were treated with GH during childhood it is most important to redefine them...

There are robust data from all parts of the World that the incidence of testicular germ cell cancer, which is often associated with dysgenesis and poor spermatogenesis in adjacent ‘normal’ testicular tissue, has been increasing during the past 50 years. There is also evidence of widespread poor semen quality among young men in European countries, where there also have been reports on declining semen quality. Although the latter findings have been subject to controver...

Ablative radioiodine therapy is critical to the treatment of differentiated thyroid cancers and their metastases, and relies on the innate ability of thyroid cells to uptake iodide via the sodium iodide symporter (NIS). As tumours with reduced avidity for radioiodine have a poorer prognosis,it is critical to identify ways to induce NIS activity and hence radioiodine uptake.Pituitary tumor transforming gene (PTTG) and its interacting partner, PTTG-binding...

Hypopituitarism and impaired fertility in adulthood may result from congenital genetic defects detected during childhood or acquired pituitary dysfunction after apoplexy or resection of a pituitary tumor or following radiation therapy. This lecture will review the fertility options for hypopituitary patients, success rates and predictors of outcome for conception and live births. In those with normal pituitary function planning surgery and/or radiation to the hypothalamic-pitu...

For >50 years female cardioprotection was attributed to premenopausal endogenous estrogen levels. We describe here how cardioprotection is greatly reduced in the presence of diabetes and endogenous testosterone levels.Forty years ago we measured total and bioavailable testosterone (bioT), total and bioavailable estradiol, and SHBG in community-dwelling older men and women from the Rancho Bernardo Study, using organic solvent extraction and celite col...

The HPA axis facilitates adaptation to stress and is essential for metabolism and health, but dysregulation of the HPA axis compromises resilience and promotes vulnerability to stress-related diseases. This includes diseases of the brain where an aberrant stress hormone action targeting susceptibility pathways causes emotional and cognitive disturbances, and affects the onset and progression of neurodegenerative processes, while impairing recovery and neurogenesis. This action...

Background: Osteogenesis imperfecta is a group of heterogenous disorders affecting connective tissue. The disorders are inherited by autosomal dominant or recessive patterns. The phenotypes vary both between and within the subgroups of which there are eight described by the modified Sillence criteria. The common features are reduced bone mineralization, predisposition to fracture and resulting bony deformities. In addition blue sclerae and joint hyperlaxity can be present....