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.
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.
Authors: M Adachi; K Tachibana; M Masuno; Y Makita; H Maesaka; T Okada; K Hizukuri; K Imaizumi; Y Kuroki; H Kurahashi; S Suwa Journal: Eur J Pediatr Date: 1998-01 Impact factor: 3.183
Authors: A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler Journal: J Med Genet Date: 1997-10 Impact factor: 6.318
Authors: Meghan Muldoon; Opal Y Ousley; Lisa J Kobrynski; Sheena Patel; Matthew E Oster; Samuel Fernandez-Carriba; Joseph F Cubells; Karlene Coleman; Bradley D Pearce Journal: Eur Arch Psychiatry Clin Neurosci Date: 2014-09-30 Impact factor: 5.270
Authors: Fabíola P Monteiro; Társis P Vieira; Ilária C Sgardioli; Miriam C Molck; Ana Paula Damiano; Josiane Souza; Isabella L Monlleó; Marshall I B Fontes; Agnes C Fett-Conte; Têmis M Félix; Gabriela F Leal; Erlane M Ribeiro; Claudio E M Banzato; Clarissa de R Dantas; Iscia Lopes-Cendes; Vera Lúcia Gil-da-Silva-Lopes Journal: Eur J Pediatr Date: 2013-02-26 Impact factor: 3.183
Authors: Alex Habel; Richard Herriot; Dinakantha Kumararatne; Jeremy Allgrove; Kate Baker; Helen Baxendale; Frances Bu'Lock; Helen Firth; Andrew Gennery; Anthony Holland; Claire Illingworth; Nigel Mercer; Merel Pannebakker; Andrew Parry; Anne Roberts; Beverly Tsai-Goodman Journal: Eur J Pediatr Date: 2014-01-03 Impact factor: 3.183
Authors: Evelyn Ning Man Cheung; Susan R George; Gary A Costain; Danielle M Andrade; Eva W C Chow; Candice K Silversides; Anne S Bassett Journal: Clin Endocrinol (Oxf) Date: 2014-05-27 Impact factor: 3.478