Endocrine Abstracts

Background: The incidence of gestational diabetes appears to be rising, likely related to the increasing prevalence of overweight/obesity in the general population, and the trend of increasing maternal age. However, it must be remembered that some women newly diagnosed with diabetes in pregnancy have latent type 1 diabetes; GAD (glutamic acid decarboxylase) antibody measurement may be useful in cases with atypical features. We present two such cases.Case...

Objectives: To establish the proportion of patients locally with potentially significant thyroid pathology not receiving specialist endocrine input. To look at the management of hyperthyroid patients within the Endocrinology service.Patients and methods: Utilising the laboratory database, 121 patients identified (97 female, 24 male; age range 17–93 years, average 55 years) with TFTs suggesting hyperthyroidism (raised fT4/fT3, and/or suppressed TSH) ...

Familial hypocalciuric hypercalcaemia type 1 (FHH1) is mainly caused by loss-of-function missense mutations of the extracellular calcium-sensing receptor (CaSR), which is a parathyroid- and kidney-expressed G-protein coupled receptor that plays a pivotal role in mineral metabolism. Here, we report the unusual occurrence of a novel heterozygous in-frame CASR exon 4 deletion, c.(492+1_493-1)_(1377+1_1378-1)del, in a family with FHH1. This mutation is predicted...