Endocrine Abstracts

A 54-year-old lady presented with malaise, weakness, and constipation. She was found to be mildly hypercalcaemia (adjusted calcium 2.68–2.76 mmol/l; reference range 2.12–2.60 mmol/l) and was referred to local endocrinology services. Her PTH was 79 ng/l (range 10–60) and a diagnosis of primary hyperparathyroidism was made. Imaging to localise a parathyroid source was negative. She was referred to the endocrine surgeons at the Royal Victoria Infirmary, Newcastle, ...

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addison’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...