Endocrine Abstracts

Background: Type 1 pseudohypoaldosteronism (PHA) is characterised by resistance to aldosterone action, resulting in salt wasting, hyperkalaemia and metabolic acidosis in the neonatal period. Type 1 PHA can be classified as Renal PHA (autosomal dominant (AD)), and the more severe Multiple target organ defect / systemic PHA (autosomal recessive (AR)). The aim of this study was to ascertain the incidence of PHA, and characterise mode of presentation, management and clinical outco...

Background: MCT8 deficiency is caused by loss-of-function (LoF) mutations in thyroid hormone (TH) transporter MCT8. Patients have developmental delay and abnormal thyroid function tests (TFTs). The large phenotypic variability is not understood. Moreover, phenotypes arising from LoF mutations could be employed to enhance understanding of physiology in the general population. Also, computational disease variant classifiers have poor predictive power to ascertain impact of MCT8 ...

Background: Primary aldosteronism (PA) is the most common potentially curable cause of secondary hypertension and is a risk factor for cardiovascular morbidity and mortality. For patients with unilateral disease adrenalectomy can be curative. However, PA remains substantially underdiagnosed due the complex diagnostic pathway required to identify patients with unilateral disease, and the difficulties in accurate lateralization of the affected adrenal gland. Spe...