Searchable abstracts of presentations at key conferences in endocrinology

ea0011p73 | Clinical case reports | ECE2006

Familial hyperparathyroidism with a mutation in the HRPT2 gene

Goulden P , Bano G , Ajith Kumar VK , Hodgson SV , Nussey SS

A 72 years old lady was referred to endocrine clinic with raised serum calcium of 2.69 mmol/l and PTH of 99.6 ng/l (3.0–48.0 ng/l) detected during investigations for an abnormal skeletal survey. She was known to have osteoporosis from the age of 59 diagnosed on Dexa scan. Case notes revealed raised serum calcium of 2.52–2.60 mmol/l since year 2000. Her repeat serum calcium was 2.77 mmol/l with phosphate of 1.03 mmol/l and 25 hydroxy vitamin D of 36 nmol/l. She admitt...

ea0011p74 | Clinical case reports | ECE2006

Pendred’s syndrome with three mutations

Goulden P , Bano G , Ajith Kumar VK , Hodgson SV , Nussey SS

This 48-year-old with consanguineous parentage presented at the age of 23 in 1980 with congenital bilateral sensorineural deafness and hypothyroidism requiring replacement with 150 mcg thyroxine. There was a family history of deafness and thyroid disease. A perchlorate discharge test was performed and 42% of the radioiodine within the gland was discharged by potassium perchlorate (NR <10%).Over the following decade she developed a diffuse goitre whic...