Endocrine Abstracts

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...

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...

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....