Endocrine Abstracts

Introduction: Monitoring glucocorticoid (GC) replacement in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) remains challenging. There are disease-specific patterns in the plasma and urinary steroid profiles in 21OHD, a key role being played by the 11-oxygenatedC19 androgens. Aim: To explore the urinary steroid profile in 21OHD in relation to treatment and plasma steroids. Methods: Partic...

The International Diabetes Federation estimates that type 2 diabetes mellitus (T2DM) will affect 642 million people by 2040. Chronically inflamed, hypoxic wounds are common in T2DM and represent a global unmet clinical need. Each year, diabetic foot ulcers cost the NHS £650 million and cause 1 in 200 UK deaths. This mortality is greater than colon, breast and prostate cancer combined. Glucocorticoids are used to treat a range of inflammatory conditions (e.g. asthma, eczem...

Introduction: There is limited knowledge on the impact of congenital adrenal hyperplasia (CAH) on the health and well-being of children and young persons (CYP). We aimed to establish the health status of CYP with CAH across the United Kingdom.Methods: We conducted a national multi-centre prospective study recruiting 107 patients aged 8–18 with 21-hydroxylase deficiency from 14 centres and 83 matched controls. Demographic, clinical, metabolic data, a...

The modulation of pancreatic islet mass represents a novel therapeutic approach for the management of diabetes mellitus. G-protein coupled receptors (GPCRs) regulate beta-cell expansion and proliferation, and the objective of this study was to assess whether the calcium-sensing receptor (CaSR), which is an abundantly expressed beta-cell GPCR, may influence islet mass and systemic glucose homeostasis, and thus represent an exploitable drug target in some forms of diabetes. We c...

Introduction: Monitoring of hormonal control represents a key part in the management of congenital adrenal hyperplasia (CAH). It remains suboptimal and relies on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence suggests a crucial role of adrenal-derived 11-oxygenatedC19 androgens in the pathogenesis of CAH. Therefore, we aimed to establish a non-invasive test for monitoring of adrenal-specific androgens in CAH.<p class="abst...

Aim: To empower our patients/parents to self-manage Type 1 diabetes (T1dm) by providing them with required knowledge and skills.Method: We identified 10 motivated, mostly newly diagnosed T1dm patients and their families. We organised a master-class to educate them on how to use DIASEND to review blood sugars, identify patterns and adjust Insulin doses. We conducted weekly DIASEND clinics for 6 weeks and fortnightly for another 6 weeks (phone call/email)....

Importance: Thyroid hormone is essential for cognitive development. The Thr92Ala substitution in deiodonase-2 appears to reduce intracellular availability of active thyroid hormone. Individuals with low-normal serum thyroid hormone levels and this substitution might have insufficient intracellular thyroid hormone for optimal cognitive development.Objective: To explore whether individuals with low thyroid hormone bioavailability – free thyroxine in t...

Glucocorticoid levels rise dramatically in late gestation in mammals and are essential for organ maturation in preparation for birth. They are widely used clinically to mature the lungs of premature infants and hypomorphic GR mice die neonatally due to severe lung atelectasis. Here, we describe fetal lethality in GR null (GR−/−) mice with 51% loss at E17.5 (P<0.05) that could be due to impaired cardiac development. Histology showed reduced hea...

Background: Previously, we reported an association of vitamin D receptor (VDR) polymorphisms and differentiated thyroid cancer (DTC) risk. The aim of the present study was to investigate other vitamin D pathway genes such as CYP27B1, CYP2R1 and CYP24A1 which code for enzymes that, respectively, synthesize and degrade 1,25(OH)2D3 in patients with DTC and healthy controls (HC). Also its influence on 25(OH)D3 and 1,25(OH)2D3 ...

1,25-Dihydroxyvitamin D3 (1,25(OH)2D3) influences the differentiation and cytokine secretion of various immune cell types. These immune modulating effects of 1,25(OH)2D3 are mediated through the nuclear vitamin D receptor (VDR). In the immune system, the 1,25(OH)2D3/VDR complex interacts with promoter vitamin D responsive elements (VDRE), or interferes with the signalling of other transcription factor...