Endocrine Abstracts

Background: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency, with preserved mineralocorticoid production. FGD type 2 is caused by mutations in MRAP encoding the melanocortin-2 receptor accessory protein. MRAP has a single transmembrane domain essential to its function in trafficking the MC2R/ACTH receptor. 15 mutations in MRAP have been described, five of which are within the canonical donor splice-site of intro...

Background: Confirmatory tests, including saline infusion test (SIT), captopril challenge test (CCT) and fludrocortisone suppression test (FST) are commonly used for diagnosis of primary aldosteronism (PA). Each test has its advantages and disadvantages, but which one should be preferentially performed is controversial. We aimed to evaluate the diagnostic accuracy of three tests in a prospective study.Methods: Five hundred and thirty-one hypertensive pat...

The active form of vitamin D, 1,25-dihydroxyvitamin D (1,25D), acting via the vitamin D receptor (VDR) is a potent regulator of gene expression, with effects on skeletal and extra-skeletal physiology. We have shown that actions of 1,25D on bone-forming osteoblasts also involve regulation of microRNAs (miRNAs) that play a key role in the functional development of these cells. In the current study, we have investigated miRNAs as mediators of innate and adaptive immune responses ...

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Pharmacological treatment with synthetic glucocorticoids, which are widely prescribed for the treatment of numerous inflammatory and autoimmune diseases, can also affect the way the adrenal gland produces cortisol. Indeed, patients undergoing synthetic glucocorticoid treatment can develop adrenal insufficiency. This condition is characterised by reduced responsiveness of the adrenal to ACTH stimulation, and adrenal crisis/shock can occur in response to acute physiological stre...

Background: Gaining a correct genetic diagnosis for patients with adrenal insufficiency is important not only to enable genetic counselling within their families, but also for correct treatment and long term management. Adrenal insufficiency is genetically heterogeneous and the long-term sequelae for many of the gene defects, including the progression of the disease and involvement of other tissues, is unknown. Next-generation sequencing (NGS) technologies allow parallel seque...

Background: The prevalence of hypothyroidism is around 1–2% in the UK. Hashimoto’s thyroiditis is thought to cause 0.1–2% of overt disease and 10–15% of subclinical hypothyroidism. This case presents a patient with severe hypothyroidism, secondary to Hashimoto’s thyroiditis, found incidentally on a surgical admission. The case study discusses the challenges and management of severe hypothyroidism in the need for an acute surgical intervention....

Problem: Interleukin-17A (IL-17A) has a role in sustaining normal pregnancy. IL-17A isalso associated with thyroid autoimmunity during pregnancy. This study sought to investigate whether IL-17A is a risk factor for thyroid dysfunction during pregnancy without thyroid autoimmunity.Methods of study: The study comprised 216 pregnant women with negative thyroid peroxidase antibody (TPOAb) andthyroglobulin antibodies (TGAb) during the second trimesterwho prov...

Introduction: Type 2 diabetes mellitus (T2DM) has the same risk of cardiovascular event with coronary artery disease (CAD). Men with diabetes are characterized by a decrease in circulating testosterone concentrations, and testosterone deficiency have been associated with increased risk of metabolic syndrome and CAD. With the increased popularity of western life style in China, the morbidity of T2DM increased greatly in young Chinese people. This study aimed to investigate the ...

This is a case of an adult female who presented with 1 year history of palpitations, heat intolerance, easy fatigability, hyperdefecation and proptosis. She was admitted to this institution due to 3 month history of nausea, vomiting, abdominal pain, flank pain and generalized weakness. During admission, she was diagnosed with hyperthyroidism supported by laboratory findings of suppressed thyroid stimulating hormone and elevated free thyroxine levels and was then treated with m...