Endocrine Abstracts

The impact of having a baby delivered with ambiguous genitalia should not be underestimated. In the UK congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is the commonest cause of genital virilization of a genetic female. Affected females may require feminizing surgery in the first year of life, with further surgery often being necessary at the time of puberty. Advances in molecular genotyping in CAH have made early antenatal diagnosis possible and the...

A 64-year-old woman who had been on Lithium 600 mg/day for 6 years for affective neurosis, presented in 2005 with acute confusion associated with a serum calcium concentration of 3.02 mmol/ which improved with rehydration. She was followed-up in outpatients and diagnosed with ‘Lithium-associated hypercalcaemia’ likely to be secondary to parathyroid hyperplasia. Results showed a corrected calcium of 2.74 mmol/l (2.1–2.55), phosphate 1.00 mmol/l (0.74–1.52), ...

Introduction: Timing, extent, complications rate and long term results of paediatric prophylactic thyroidectomy (pPT) for MEN2 in the UK are unknown.Methods: All UK centers performing pPT were invited to participate in the study.Data were obtained from notes and hospitals electronic databases.Results: Fifty-one children (27 males) were included.All had genetic test at the mean age of 5 years (median 3, range 0.25–15), confirmi...