Searchable abstracts of presentations at key conferences in endocrinology

ea0055p33 | Poster Presentations | SFEEU2018

A case of vitamin D-dependent rickets type 2A (VDDR2A), caused by compound-heterozygous mutations in the vitamin D receptor (VDR)

Stokes Victoria , Pagnamenta Alistair , Stevenson Mark , Lines Kate E , Shine Brian , Taylor Jenny , Richardson Tristan , Thakker Rajesh V

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...

ea0059p053 | Bone and calcium | SFEBES2018

Identification of a frame-shifting c.348dupC GNAS mutation in a family with Pseudohypoparathyroidism type 1a (PHP1a) by Whole Genome Sequencing

Warner Bronwen E , Pagnamenta Alistair T , Stevenson Mark , Lines Kate E , Ahmed S Faisal , Taylor Jenny C , Thakker Rajesh V

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...

ea0059oc1.4 | Translational highlights | SFEBES2018

Whole genome sequence analysis establishes correct diagnosis for a syndromic form of hyperuricaemia

Stevenson Mark , Pagnamenta Alistair T , Reichart Silvia , Mennel Stefan , Philpott Charlotte , Lines Kate E , Gorvin Caroline M , Lhotta Karl , Taylor Jenny C , Thakker Rajesh V

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...

ea0059p052 | Bone and calcium | SFEBES2018

Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

Stevenson Mark , Pagnamenta Alistair T , Mack Heather G , Savige Judith A , Lines Kate E , Taylor Jenny C , McCredie David A , Thakker Rajesh V

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...