Endocrine Abstracts

Background: Establishing a genetic diagnosis in patients presenting with potential monogenic endocrine disorders can provide benefits for the individual and wider family. Next-generation sequencing (NGS) gene panels provide a time- and cost-efficient platform for testing. A Scottish NGS endocrine testing platform, comprising 30 genes (11 individual panels), was established in 2018. A national genomic test-directory provides eligibility criteria for testing, bu...

Background: Autosomal dominant hypocalcaemia (ADH) is most commonly due to activating mutations in the Calcium Sensing Receptor (ADH Type 1), in which treatment with vitamin D analogues is frequently associated with hypercalciuria. More recently, activating mutations in the alpha-subunit of the G-protein α-11 (Gα11), encoded by GNA11, have been identified in a small number of ADH kindreds (ADH Type 2). The impact of vitamin D analogue treatment in ADH2 patie...