Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.
Bottom Line: Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0.02).The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11.2DS and that there is a high recurrence rate of neonatal hypocalcaemia.Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11.2DS.
Affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.Show MeSH
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Mentions: Subjects were considered to have a specific endocrinological condition, including hypocalcaemia, hypoparathyroidism and hypothyroidism, if it was documented in medical records and/or the laboratory measurements were outside of the reference ranges for the individual laboratory performing the respective test. Only for ease of graphic representation of intact PTH and ionized calcium levels did we use the single most common ranges: 1·3–7·6 pm and 1·2–1·35 mm, respectively (Figs1 and 2).
Affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.