Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome

Autor: Lasprilla-Tovar J; HOMI Fundacion Hospital Pediatrico la Misericordia, Pediatric Endocrinologist, Colombia, South America, Zuluaga NA; Hospital San Vicente Fundación and Associate Professor, Universidad de Antioquia, Pediatric Endocrinologist, Colombia, South America, Forero C; Hospital San Vicente Fundación and Associate Professor, Universidad de Antioquia, Pediatric Endocrinologist, Colombia, South America, Correa-Jiménez O; Universidad Nacional de Colombia, Pediatric Pulmonology and Immunology Research Group, Colombia, South America, Sierra JM; Universidad de Antioquia, Department of Pediatrics, Colombia, South America
Jazyk: angličtina
Zdroj: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Feb 27; Vol. 15 (1), pp. 16-24. Date of Electronic Publication: 2022 Aug 19.
DOI: 10.4274/jcrpe.galenos.2022.2022-4-12
Abstrakt: Objective: Several endocrine manifestations have been described in patients with 22q11 deletion syndrome, including growth retardation, hypoparathyroidism, and thyroid disorders. This study aimed to characterize these abnormalities in a Colombian retrospective cohort of children with this condition.
Methods: A retrospective study comprising a cohort of children with 22q11 deletion syndrome in Medellín, Colombia followed up between 2011 and 2017 was conducted.
Results: Thirty-seven patients with a confirmed diagnosis of 22q11 deletion syndrome were included. 37.8% had some endocrinopathy, the most frequent being hypoparathyroidism (21.6%), followed by hypothyroidism (13.5%), hyperthyroidism (2.7%) and growth hormone deficiency (2.7%). There was wide heterogeneity in the clinical presentation, with late onset of severe hypocalcemia associated with seizure or precipitated in postoperative cardiac surgery, which highlights the importance of continuous follow-up as indicated by the guidelines. Short stature was mainly related to nutritional factors. Growth monitoring is required with the use of syndrome-specific charts and careful monitoring of the growth rate.
Conclusion: As previously reported, a significant proportion of patients with endocrine abnormalities were found in this cohort. This highlights that it is essential to carry out an adequate multidisciplinary follow-up, based on the specific clinical guidelines, in order to avoid serious complications such as convulsions due to hypocalcemia. It is important to track size with curves specific to the syndrome and analyze the growth rate.
(©Copyright 2023 by Turkish Society for Pediatric Endocrinology and Diabetes | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.)
Databáze: MEDLINE
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