Endocrine Abstracts

In humans glucocorticoid (GC) excess can promote hepatic glucose and triglyceride production contributing to obesity, fatty liver and diabetes. 11β-HSD1 activates GCs (11-DHC to corticosterone in mice), thereby increasing tissue concentrations. The liver has the highest 11β-HSD1 activity, and its inhibition has emerged as a therapeutic option. To investigate this we generated 11β-HSD1 liver-specific knockouts (HSD1LKO) and examined GC metabolism and responses to...

Introduction: Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000–160,000, caused by mutations across >20 known genes encoding for proteins responsible for primary cilium/basal body complex integrity. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been reported; howe...

In recent years, scalp hair analysis had been successfully introduced as a novel biomarker for long-term cortisol levels. Traditionally used methods to measure cortisol (blood, saliva, urine) are complicated by the circadian rhythm and pulsatile way of cortisol secretion, as well as the influence of acute stress and day-to-day variation. In contrast to these short-term measurements, hair cortisol analysis allows to quantify the average cortisol production for a prolonged perio...

Background: Genetics may play an important role in type 2 diabetes (T2D). In the last 20 years, there has been a surge in the number of genetic studies in attempts to identify some of the underlying risk factors. Mutations in a wide variety of genes contribute to the deregulation of glucose homeostasis, and seem to confer the risk for developing T2D. Insulin receptor substrate-1 (IRS1) is a substrate of the insulin receptor tyrosine kinase and appears to have a control role in...

Background: Type 2 diabetes (T2D), which is multifactorial, inherited and progressive chronic disorder, is characterised by hyperglycemia due to defects in insulin secretion and action. The sulfonylurea receptor (SUR1) and the insulin receptor (INSR) are critical elements in insulin-signalling pathways, and mutations in the SUR1 and INSR genes have been reported to have a role in determining susceptibility to T2D.The aim was to study whether the -3 C/T p...

Cis-gender females are known to mount stronger humoral immune responses than cis-gender males. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system.Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ‘switches’ from early IgM/IgD classes to IgG/IgA/IgE. Whilst important in infection/vaccine responses; switched isot...

At our department of Endocrinology a 44-year-old patient with typical clinical signs of Cushing’s disease presented. Diagnostic procedure showed an ACTH-producing adenoma of the pituitary gland, so the patient underwent transsphenoidal surgery. Afterwards, hypercortisolism persisted and was treated with Ketoconazole. After a short period of time a pituitary hemorrhage occurred and resulted not only in a complete remission of Cushing’s symptoms, but also in hypopituit...

Background: Inflammatory skin diseases such as psoriasis induce changes in the skin-secretome, which potentially lead to dysfunction of key metabolic tissues and increased risk of psoriasis co-morbidities, such as type 2 diabetes (T2D). However, the proteins and peptides that make up the skin-secretome remain poorly characterised. Proteomic analysis has identified vimentin, parathymosin, prothymosin-alpha, dermcidin, and desmin as potential skin-secretome factors, which may in...

A 27 year old was referred to endocrine clinic for investigation of longstanding gynaecomastia. He had noticed loss of early morning erections. He never fully grew a beard and had no children. This was associated with temporal hair recession and intermittent headaches. On examination he appeared to be of asthenic built and youthful. He was tall with his upper body being longer than lower. He had widely spaced breasts and long arms. His testicular volume on examination was 1&#1...

Introduction: The uterus develops during puberty and increases not only in length but also in width and depth, to achieve a mature shape. Pubertal induction with exogenous oestradiol aims to mimic this. Research to date shows variable results for the attainment of an adult uterine configuration in females with hypogonadism. Suboptimal uterine development is hypothesised to be a contributing factor for adverse reproductive outcomes in females with hypogonadism undergoing egg do...