Endocrine Abstracts

Background: Sporadic and familial autosomal dominant non-autoimmune hyperthyroidism (S/FANH) is caused by activating germline mutations in the TSH Receptor (TSHR) gene. These patients lack TSHR-Ab, show diffuse uptake on radionuclide thyroid scan and often lack positive family history due to variable penetrance. Because of these overlapping features, S/FANH is difficult to distinguished from Graves’ disease without autoimmune features. Ther...

Introduction: Minimally invasive surgical treatment of primary hyperparathyroidism (PHPT) requires optimal preoperative localisation imaging. Parathyroid four-dimensional CT (4D-CT) has been reported to provide greater sensitivity than MIBI-SPECT/CT in localizing parathyroid adenomas. We analysed the additional value of 4D-CT in our cohort of PHPT patients.Materials and methods: Patients who attended our parathyroid clinic between February 2016 and April...

Background: Sporadic and familial autosomal dominant non-autoimmune hyperthyroidism (S/FANH) is caused by activating germline mutations in the TSH Receptor (TSHR) gene. These patients lack TSHR-Ab, show diffuse uptake on radionuclide thyroid scan and often lack positive family history due to variable penetrance. Because of these overlapping features, S/FANH is difficult to distinguished from Graves’ disease without autoimmune features. Ther...

Objectives: Free thyroxine (fT4) measurements are performed to detect thyroid disorders and monitor treatment. FT4 is measured using automated immunoassays (IAs) which face established analytical challenges due to low serum concentrations in the picomolar range and the precarious equilibrium between free and bound T4 (to thyroid-binding globulin (TBG) and (pre-)albumin). Furthermore, IAs are known to be affected by the composition of the serum sample (matrix-effects), which ca...

Aims: Prolyl-4 hydroxylase domain protein 3 (PHD3) is an alpha ketoglutarate-dependent dioxygenase involved in the oxygen-dependent regulation of cell phenotype. While PHD3 has been reported to suppress insulin sensitivity in the liver, little is known about effects of the enzyme in insulin-secreting β-cells.Methods: βPHD3−/− mice were generated by crossing the Ins1Cre driver line with animals bearing a floxed Egln3</...

Background: Low energy availability (LEA) in female athletes can result in HPG axis suppression. Basic military training (BMT) is physically arduous and associated with amenorrhoea and low-trauma fractures. We hypothesised that women undergoing BMT would demonstrate evidence of LEA and suppressed HPG function.Design: Prospective study of 61 women undertaking 11-month BMT. Subjects acted as their own controls at baseline (all measures). Body composition m...

A 30-year-old female presented to her general practitioner with a three-month history of fatigue, visual disturbance, polydipsia and dizziness. She was treated for iron deficiency anaemia, but re-presented two-months later with new-onset headache and worsening visual disturbance. Previously, she had childhood leukaemia, treated in Brazil with no cranial irradiation. On examination there was left eye loss of light/dark perception and right temporal vision loss. She was referred...

Background: Primary hypothyroidism affects about 3% of the general population (5.1% women and 0.9% men). The majority of people are treated adequately with levothyroxine. However about 5–10% of hypothyroid patients (representing between 75 000 and 150 000 adults in the UK) continue to experience profound and sometimes disabling symptoms, such as fatigue/depression/impaired cognition, in spite of being adequately replaced biochemically. Before any trial of alternatives to ...

Cushing’s syndrome (CS) in humans shares many similarities with its counterpart in dogs in terms of etiology (pituitary versus adrenal causes), clinical signs, and pathophysiologic sequelae. ATR-101 is a novel small molecule therapeutic currently in clinical development for the treatment of congenital adrenal hyperplasia and adrenocortical carcinoma in humans. ATR-101 is an adrenal-selective inhibitor of ACAT1 (acyl coenzyme A:cholesterol acyltransferase 1). ACAT1 catalyz...

The most common form of endocrine cancer is differentiated thyroid cancer (DTC). Outcomes of DTC largely depend on radioiodine treatment, which is mediated the sodium-iodide symporter (NIS). However, many tumours exhibit NIS dysregulation, resulting in a poorer prognosis. Since breast cancer can also overexpress NIS, albeit of limited function, radioiodine treatment may be a promising treatment option. Our previous data show that overexpression of the pituitary tumor-transform...