Endocrine Abstracts

33-year old obese but otherwise considered ’healthy’ patient was admitted to department of surgery due to wet gangrene of left foot. Lower leg amputation was done. As patient was obese with ITM 44 kg/m2 endocrinologist was consulted. In overnight 1 mg dexamethason supression test cortisol was 72 nmol/l, HbA1c was 5.7%, TSH was 8 mIU/l, level of 25-OH D vitamin below lower range and arterial blod pressure was normal (130/80 mmHg). Patient had central obesit...

78-year old previously healthy man was reffered to Outpatient endocrinology clinic due to painful spine and shoulders. His lumbar and thoracic X-ray showed decreased lumbar and thoracic vertebrae (L1, L2 and Th 5) and densitometry indicated slightly decreased bone density with T score -1,0 in left femoral neck and L1 vertebra. Since patient mentioned recent unintentionally 10 kg weight loss he was processed to further work-up and additional blood tests were done. Secondary ost...

Most cellular actions of the steroid and thyroid hormones, vitamins A and D, and other small lipophilic molecules are mediated through binding to nuclear receptors, which act as ligand-inducible transcription factors by recruiting coactivators and corepressors. Steroid receptors bind as homodimers to hormone-response elements (HREs) in target genes, while non-steroid receptors generally bind DNA as heterodimers with the retinoid X receptor (RXR). Our understanding of nuclear r...

The identification of naturally occurring genetic mutations has provided unique insight into the current knowledge of the human hypothalamic–pituitary–gonadal axis. In the last 5 years, several loss-of-function mutations in the G-protein coupled receptor 54 (GPR54) gene have been shown to cause isolated hypogonadotropic hypogonadism. Although these mutations are not a common cause of hypogonadotropic hypogonadism, patients bearing mutations are critical to explore ge...

Nuclear receptors such as the thyroid hormone receptors (TR α and β) or vitamin D receptors (VDR) regulate gene expression by binding to DNA as heterodimers with the retinoid X receptor (RXR). Their effects on transcription are mediated by the recruitment of coregulators (coactivators and corepressors). The C-terminal AF-2 receptor domains are required for coactivators recruitment. The RXR ligand (9-cis-RA) cooperates with the ligand of its partner receptor to...

Addison’s disease (AD), also known as primary adrenal insufficiency, is caused by destruction or dysfunction of the adrenal cortex, resulting in hypocortisolism. The usual clinical features of chronic AD are non-specific and include fatigue, nausea, vomiting and hyperpigmentation. We describe the case of a 58-year-old African black male with AD presenting with recurring severe hypoglycaemia. The patient was admitted several times to the emergency department with hypoglyca...

Pseudohypoparathyroidism (PHP) is a rare group of genetic disorders characterised by end-organ resistance to parathyroid hormone (PTH). We describe the case of a 34-year-old Caucasian female with severe hypocalcaemia presenting with a first generalised seizure. Her medical history was significant for bilateral cataract. She had three healthy children, and no family history of note. On examination, she had positive Chvostek’s sign. Biochemical analysis showed serum calcium...

Introduction: Glucocorticoid resistance syndrome (GRS) is a rare familial or sporadic condition, caused by mutations in glucocorticoid receptor gene. It is characterised by generalised partial resistance of target tissues to cortisol action and compensatory elevation of ACTH with subsequent hypersecretion of cortisol, mineralocorticoids and androgens. Its clinical spectrum is broad and it may occur with high blood pressure (HBP) metabolic alcalosis, hypokalaemia and virilisati...

Background: Amiodarone is a commonly used antiarrhythmic drug, but because of its abundance with iodine and a direct toxic effect on the thyroid, it can have side effects like hypo- and hyperthyroidism. There are two types of amiodarone-induced thyrotoxicosis (AIT). We present a case which demonstrates the importance of timely diagnosis and appropriate treatment of amiodarone-induced thyrotoxicosis in patients with serious cardiac comorbidities.Case pres...

The biological regulatory system through which the organism responds to environmental pressures is mediated by epigenetic modifications of the genome without altering the DNA sequence. Among the epigenetic processes, DNA methylation is perhaps the best understood epigenetic adaption and most common DNA modification. This mechanism plays an important role in regulating the gene expression of many biological processes and has wide-ranging effects on health. Aberrant epigenetic r...