Endocrine Abstracts

Case history: Vitamin D-dependent rickets type 2 (VDDR2) is an autosomal recessive condition caused by resistance to 1,25(OH)2D3, either through vitamin D receptor (VDR) mutations (type A) or abnormal expression of interfering proteins (type B), resulting in hypocalcaemia despite elevated plasma 1,25(OH)2D3 and parathyroid hormone concentrations. We report a proband, born to Caucasian non-consanguineous parents, who presente...

Pseudohypoparathyroidism (PHP) is due to parathyroid hormone (PTH) resistance that results in hypocalcaemia, hyperphosphataemia and elevated plasma PTH concentrations. Some PHP patients also have Albright’s hereditary dystrophy (AHO), which is characterised by short stature, round faces, dental hypoplasia, brachydactyly, subcutaneous ossifications and reduced mental acuity. The 3 major types of PHP referred to as PHP type 1a (PHP1a), PHP1b and pseudopseudohypoparathyroidi...

Whole genome sequencing (WGS) has the potential to identify nearly all forms of genetic variation. In complex disorders with multiple manifestations WGS can establish a definitive diagnosis that may change clinical management (Stavropoulos et al. 2016 Genomic Med). Here, we report on the utility of WGS in establishing the correct diagnosis in a family with hyperuricaemia. Hyperuricaemia may occur as: part of a syndromic disorder (e.g. Lowe syndrome, renal col...

Bartter’s syndrome (BS) and Gitelman’s syndrome (GS) are renal tubular disorders affecting reabsorption of sodium, potassium and chloride. Common clinical features include muscle cramps and weakness, hypokalaemia, hypochloraemic metabolic alkalosis and elevated plasma aldosterone concentrations. Urinary calcium excretion and plasma magnesium concentrations may be differentiating features, such that hypomagnesaemia and hypocalciuria are typical of GS, and hypercalciur...