Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.

Abstract:

BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia. METHODS:We investigated hypocalcaemia in a well-characterized sample of 138 adults with 22q11.2DS (65 m, 73 F; mean age 34.2, SD 11.8, years) using laboratory studies and lifelong medical records. Logistic regression modelling was used to identify features associated with lifetime prevalence of hypocalcaemia. RESULTS:Of the total sample, 111 (80.4%) had a lifetime history of hypocalcaemia. Eleven (84.6%) of 13 subjects with neonatal hypocalcaemia had documented recurrence of hypocalcaemia. Lifetime history of hypocalcaemia was associated with lifetime prevalence of hypoparathyroidism (P < 0.0001) and hypothyroidism (P = 0.04), as statistically independent factors. Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0.02). CONCLUSIONS: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. Hypomagnesaemia may contribute to hypocalcaemia by further suppressing parathyroid hormone (PTH). Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11.2DS. At any age, hypocalcaemia with hypoparathyroidism and/or hypothyroidism may suggest a diagnosis of 22q11.2DS.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Cheung EN,George SR,Costain GA,Andrade DM,Chow EW,Silversides CK,Bassett AS

doi

10.1111/cen.12466

subject

Has Abstract

pub_date

2014-08-01 00:00:00

pages

190-6

issue

2

eissn

0300-0664

issn

1365-2265

journal_volume

81

pub_type

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