Endocrine Abstracts

We present 2 patients who developed severe thyrotoxic exacerbation following radioiodine. The first treated by conventional antithyroid therapy, the second was plasma exchanged.Patient A aged 39 male with FT3=28.2 pmol/l (2.5–5.3) FT4=49.0 pmol/l (9.1–23.8) TSH=<0.01 mU/l (0.32–5.0),a large diffuse goitre, thyroid eye disease and asthmatic on inhaled ventolin. He received 3.5 years of carbimazole 40 mg and thyroxine 100 mcg. Thyroxine ...

Mutations in the HSD11B2 gene explain the syndrome of apparent mineralocorticoid excess (AME), which is characterised by severe hypokalaemic hypertension. Cortisol acts as a mineralocorticoid through failure of its inactivation to cortisone by 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2). Patients are diagnosed by a raised THF+allo-THF/THE ratio. To date, approximately 30 mutations have been described in HSD11B2. Recently, three apparently unrelated kindreds with A...