RT Journal Article SR Electronic T1 Hypoparathyroidism and 22q11 deletion syndrome JF Archives of Disease in Childhood JO Arch Dis Child FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health SP 520 OP 522 DO 10.1136/adc.88.6.520 VO 88 IS 6 A1 S C Taylor A1 G Morris A1 D Wilson A1 S J Davies A1 J W Gregory YR 2003 UL http://adc.bmj.com/content/88/6/520.abstract AB Aims: To investigate a population of individuals with 22q11 deletion syndrome for hypocalcaemia. Methods: A detailed clinical history enquiring into symptoms of hypocalcaemia and blood sampling to assess for hypocalcaemia and hypoparathyroidism, of patients outside the neonatal period known to have the 22q11 microdeletion from fluorescent in situ hybridisation studies was taken. Results: Sixty one individuals were identified, of whom 23 were untraceable and one was unable to give informed consent. Biochemical investigations were performed on 27 subjects. Ten subjects had review of notes only. Four subjects had previously identified hypoparathyroidism. A new case of hypoparathyroidism was identified. Three subjects had borderline hypocalcaemia. Discussion: In this population of patients with 22q11 deletion syndrome, 13% of the total or 30% of those biochemically assessed had evidence of reduced serum calcium concentrations. It is likely that 13–30% of patients with 22q11 deletion syndrome have possible hypoparathyroidism outside the neonatal period. Reported symptoms of hypocalcaemia did not correlate with biochemical evidence of persisting hypocalcaemia. We have shown that previously undiagnosed asymptomatic hypoparathyroidism occurs in patients with 22q11 deletion syndrome and conclude that screening of this population should be considered.