Endocrine Abstracts

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder (UCD) with a prevalence of one in 60-70,000 in humans. It is mainly caused by mutations in the OTC gene, which encodes the enzyme ornithine transcarbamylase. Patients with OTCD present disturbed urea cycle function and ammonia accumulation in the bloodstream, downstream leading to a range of symptoms, including developmental delay, cerebral oedema, coma, and death. We developed a human...

Introduction: Vitamin D deficiency is common in ethnic minority population living in UK. It is a relatively easily treatable condition. However, if left untreated it may lead to chronic secondary hyperparathyroidism and onto tertiary hyperparathyroidism. We report three cases of severe vitamin D deficiency who presented with hypercalcaemia.CasesWe report three patients. 60 and 46 years old ladies, both of south-asian origin, a 46 y...

Cis-gender females are known to mount stronger humoral immune responses than cis-gender males. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system.Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ‘switches’ from early IgM/IgD classes to IgG/IgA/IgE. Whilst important in infection/vaccine responses; switched isot...