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

• Published in: American journal of medical genetics. Part A 2017-05, Vol.173 (5), p.1301-1308
• Main Authors: Levy‐Shraga, Yael, Gothelf, Doron, Goichberg, Zohar, Katz, Uriel, Somech, Raz, Pinhas‐Hamiel, Orit, Modan‐Moses, Dalit
• Format: Article
• Language: English
• Subjects: 22q11 Deletion Syndrome - diagnosis; 22q11 Deletion Syndrome - genetics; 22q11 Deletion Syndrome - physiopathology; 22q11.2 deletion syndrome; Adolescent; Adolescents; Adult; Body Height; Child; Child development; Child, Preschool; Children; Chromosomes, Human, Pair 22 - genetics; congenital heart disease; DiGeorge syndrome; Endocrine System Diseases - diagnosis; Endocrine System Diseases - genetics; Endocrine System Diseases - physiopathology; Female; growth; Growth patterns; Heart; Humans; Hypoparathyroidism; Hypoparathyroidism - genetics; Hypoparathyroidism - physiopathology; Insulin-like growth factor I; Male; Neonates; Patients; Thyroid; Thyroid gland; Thyroid Gland - abnormalities; Thyroid Gland - physiopathology; velocardiofacial syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.38175

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