Endocrine Abstracts

Introduction and objectives: Anaplastic thyroid cancer (ATC) has a very low overall survival (OS) and progression free survival (PFS) due to fast growth and resistance to non-target therapies. A recent phase II study showed a dramatic increase in OS and PFS of BRAF V600E mutated ATC patients treated with Dabrafenib and Trametinib (DT). However as commonly reported in melanoma durable responses in ATC may be compromised by resistance mechanisms. Until now only a few ca...

Introduction: Forkhead box E1 (FOXE1) gene encodes a transcription factor crucial for thyroid morphogenesis, differentiation, and function. We previously found evidence of the involvement of a rare germline FOXE1 variant in familial non-medullary thyroid carcinoma (FNMTC) etiology. FNMTC most common subtype is papillary thyroid carcinoma (PTC), and family members frequently present thyroid follicular nodular disease (FND). Germline FOXE1 mu...

A 36-year-old woman in follow-up due to early ovarian failure of idiopathic origin. No family history of interest. History of menarche at 12 years of age with regular menses until 18 years of age, when it begins with amenorrheic spells lasting up to 8 months. Laboratory tests revealed hypergonadotropic hypogonadism with negative ovarian autoantibodies, normal karyotype, and gynecological ultrasound showing a normal-looking uterus with slight bilateral ovarian atrophy. Negative...

Cyclophosphamide is an alkylating agent used in the treatment of malignant and autoimmune diseases. Severe hyponatraemia is a serious electrolyte disorder with life threatening neurological sequelae. We report a case of recurrent severe, symptomatic hyponatraemia that developed in a 61 year old female with systemic vasculitis and Sjogrens syndrome following low-dose cyclophosphamide.Case report: A 61 year old lady, with ANA positive systemic vasculitis p...

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...