Endocrine Abstracts

A 25-year-old lady with a background of Multiple Endocrine Neoplasia (MEN) type 2 a was referred to the endocrine team during her first pregnancy. She was initially diagnosed with bilateral phaeochromocytomas in Romania in 2018 after presenting with paroxysmal headaches and hypertension, and underwent laparoscopic bilateral adrenalectomies. Subsequently, she was diagnosed with MEN2 a when found to have a RET gene mutation: RET exon 11 C1901 G2a, p.CYs634Tyr. She was the index ...

Case history : A 44-year-old female presented with 6-week history of gradual deterioration in her left vision associated with eye pain. She saw an ophthalmologist who noted that she had reduced visual acuity (6/24) and colour vision (Ishihara colour vision score 3/15) in her left eye with left relative afferent pupillary defect (RAPD). It was thought that she may have a left retrobulbar neuritis so she was advised to attend A&E for an urgent neurology assessment. On examin...