Endocrine Abstracts

Introduction: Metformin induced impaired vitamin B12 absorption leading to fall in serum cobalamin levels has been described in literature as early as 1971. Approximately 10% of patients and in some studies 30% of patients on metformin therapy developed metformin related cobalamin deficiency. The risk of cobalamin deficiency is comparatively more among patients with vegetarian diet than in non-vegetarians.Objective: To evaluate the effect of dose and dur...

The TRH test is used in the diagnosis of hypothalamic-pituitary (hp) disorders in children. It is unclear how often the result of this test is helpful. We have examined the results of TRH testing in 143 children investigated primarily for disordered growth. Children with hp axis tumours were excluded.The TSH response to TRH (5microg/kg iv) was defined as abnormal if the peak TSH was <5mU/L (pituitary), or if the peak TSH at 60 mins was higher than at ...

Background: It is often difficult to define the clinical relevance of a novel gene variant. In silico analyses of variants located close to exon–intron-junctions are utilised to predict the result of these basepair changes. We have previously identified two splice-site variants in AIP and confirmed the predicted changes for c.249G>T, p.G83AfsX15 and c.807C>T. We identified the c.469-2A>G heterozygous variant located at the end of intron-3 in a childhood...