Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome

摘要

22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0 +/- 6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3 +/- 4.9 years and age at last evaluation 11.2 +/- 7.2 years. Median height-SDS was negative at all ages. Height-SDS at last visit was correlated to the midparental height-SDS (r=0.52 P=0.002). Yet, participants did not reach their target height, with a difference of 1.06 +/- 1.07 SD (P<0.0001). Height-SDS at last visit of participants with a heart defect was lower compared to participants with a normal heart (-1.5 +/- 1.4 vs. -0.6 +/- 0.8, P=0.036), with lower height-SDS in the subgroup of participants with severe heart defects (-2.1 +/- 1.6, P=0.009). Mean IGF1-SDS was low (-0.99 +/- 1.68) but was not correlated with height-SDS. Thirteen patients (27%) had hypoparathyroidism: 10 presented during infancy and 3 during adolescence. Five patients (10.4%, female=4) had thyroid abnormalities. In conclusions, individuals with 22q11.2 DS have a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low-normal range. Hypoparathyroidism is common and may present during the neonatal period as well as later in life. Thyroid abnormalities may present during childhood, adolescence, or adulthood.