Endocrine Abstracts

Endometriosis is a chronic incurable hormone dependent condition characterized by growth of endometrial tissue in sites outside the uterus: 30–40% of women with endometriosis have sub/infertility however the underlying cause is unknown. We have previously demonstrated that steroid-induced differentiation of endometrial stromal cells (hESC) (decidualisation) is associated with increased expression of metabolic genes that are thought to be essential to support the implantin...

AMP-activated protein kinase (AMPK) acts as a sensor and regulator of cellular energy homeostasis. Once activated, AMPK influences a number of responses including inhibition of anabolic pathways and the switching-on of catabolic pathways. Regulation of AMPK, which responds to an increase in the AMP/ATP ratio, could have an important role in chondrocyte function particularly in response to hormones and to stress such as occurs in osteoarthritis. Therefore, we sought to investig...

Oestrogen receptor (ER) activity has a wide spectrum of functions in the human body, including the development, growth and maintenance of the reproductive system. There are two ER subtypes, ERα and ERβ. The latter exists as multiple splice variants (ERβ1, ERβ2 and ERβ5) some of which lack a steroid ligand-binding domain. ERs act as steroid-ligand activated transcription factors. Epidermal growth factor (EGF) acting via the MAP kinase pathway has been s...

A number of candidate genes have been investigated as susceptibility loci for the development of Graves' disease. Those which appear to be consistently associated with disease include the HLA and the CTLA-4 gene regions. Polymorphisms of the VDR gene have been shown to increase susceptibility to autoimmune diseases including type 1 diabetes, multiple sclerosis, and Crohn's disease. Recently, an association has also been reported between the VDR gene and autoimmune thyroid dise...

Graves' disease and type 1 diabetes frequently occur together and this would suggest that genetic susceptibility is due to common loci. The insulin (INS) gene region (IDDM2) on chromosome 11p15.5 is linked to, and associated with, type 1 diabetes and it has been suggested that it may be acting as a general autoimmunity locus. Susceptibility is conferred by the variable number of tandem repeats (VNTR); a polymorphic region situated 5' to the INS gene. The class I/I homozygote g...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function calcium-sensing receptor gene (CASR) variants, is characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hypercalciuria, hyperphosphatemia and hypomagnesemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria, which may result in renal complications. Calcilytics, such as encaleret, are negative allosteric modulators of the calcium-sensing receptor (CaSR). T...

Endometriosis is a chronic oestrogen-dependent incurable inflammatory disorder, defined by the presence of endometrial-like tissue outside the uterine cavity that affects 6–10% of women of reproductive age. It is associated with debilitating pelvic pain and subfertility with a significant impact on quality of life and estimated annual costs to the UK of £11.7 billion. Recent findings from our laboratory have shown that there is a shift in cell metabolism from mitocho...

Objectives: Children and young people (CYP) with Type 1 Diabetes Mellitus (T1DM) are at risk of acute clinical emergencies. Wearing medical identification (ID) is recommended by the National Institute for Clinical excellence (NICE). Information on adherence to this recommendation in CYP with T1DM is scarce. This study aimed to assess parent and CYP’s knowledge of the recommendation, to explore adherence and barriers to carrying ID and understand preferred forms of ID....

Background: For patients in an adrenal crisis, the timely administration of parenteral hydrocortisone can be life-saving. Data from the Addison’s Disease Self-Help Group found that a large proportion of adrenal crises occur out of hospital, with many patients relying on the emergency services for initial parenteral hydrocortisone administration. Despite regular patient education (including parenteral hydrocortisone self-administration) and recommendations to wear steroid...

The National Paediatric Diabetes Audit 2021 uncovered widening disparity in the utilisation of diabetes technologies among children and young people (CYP) with type 1 diabetes from ethnic minorities and low socioeconomic groups. Our data revealed that only 27.5% of CYP from ethnic minorities were using insulin pump therapy, compared to 50% from a white background. Unfortunately, our current staffing levels and available resources were inadequate to address this issue effective...