Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome
| Autor: | Orit Pinhas-Hamiel, Uriel Katz, Dalit Modan-Moses, Yael Levy-Shraga, Raz Somech, Zohar Goichberg, Doron Gothelf |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Pediatrics 22q11 Deletion Syndrome Adolescent Hypoparathyroidism Chromosomes Human Pair 22 Thyroid Gland 030105 genetics & heredity Endocrine System Diseases 03 medical and health sciences 0302 clinical medicine Growth restriction Internal medicine DiGeorge syndrome Genetics medicine Humans Endocrine system Deletion syndrome Child Genetics (clinical) business.industry Thyroid Anthropometry medicine.disease Thyroid abnormalities Body Height medicine.anatomical_structure Endocrinology Child Preschool Female business 030217 neurology & neurosurgery |
| Zdroj: | American Journal of Medical Genetics Part A. 173:1301-1308 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.38175 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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