Cargando…
Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study
Background. Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is the most frequent microdeletion syndrome and is mainly characterized by congenital cardiac defects, dysmorphic features, hypocalcemia, palatal dysfunction, developmental delay, and impaired immune function due to thymic hypoplasia or ap...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498530/ https://www.ncbi.nlm.nih.gov/pubmed/36140720 http://dx.doi.org/10.3390/genes13091552 |
_version_ | 1784794782144397312 |
---|---|
author | Ricci, Silvia Sarli, Walter Maria Lodi, Lorenzo Canessa, Clementina Lippi, Francesca Azzari, Chiara Stagi, Stefano |
author_facet | Ricci, Silvia Sarli, Walter Maria Lodi, Lorenzo Canessa, Clementina Lippi, Francesca Azzari, Chiara Stagi, Stefano |
author_sort | Ricci, Silvia |
collection | PubMed |
description | Background. Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is the most frequent microdeletion syndrome and is mainly characterized by congenital cardiac defects, dysmorphic features, hypocalcemia, palatal dysfunction, developmental delay, and impaired immune function due to thymic hypoplasia or aplasia. Thyroid anomalies are frequently reported in patients with 22q11.2DS, although only a few well-structured longitudinal studies about autoimmune thyroid disease (ATD) have been reported. Aim. To longitudinally evaluate the frequency of thyroid anomalies and ATD in patients with 22q11.2DS. Patients and Methods. Pediatric patients with a confirmed genetic diagnosis of 22q11.2DS were recruited and followed up on longitudinally. Clinical, biochemical, and immunological data were collected, as well as thyroid function, autoimmunity, and thyroid sonographic data. Results. The study included 73 children with 22q11.2DS, with a mean follow-up duration of 9.51 ± 5.72 years. In all, 16 of the 73 enrolled patients (21.9%) developed ATD before 18 years of age (mean age 12.92 ± 3.66 years). A total of 20.5% developed Hashimoto’s Thyroiditis (HT), of whom 50% required L-thyroxine treatment; 1.4% developed Graves Disease. Thyroid hypoplasia was found in 6/16 patients with ATD and left lobe hypoplasia in 9/16 patients. These features were also found in patients affected by 22q11.2DS without ATD. Among patients who developed ATD, at the first altered ultrasound scan, the most frequent anomalies suggestive of thyroiditis were inhomogeneous echotexture, diffuse or irregular hypo-echogenicity, and vascular overflow. Conclusion. We strongly recommend periodic screening of thyroid function and for autoimmunity in patients affected by 22q11.2DS. Along with blood tests, ultrasound scans of the thyroid gland should be performed periodically since some patients who go on to develop an ATD could have specific anomalies on ultrasound prior to any other anomaly. |
format | Online Article Text |
id | pubmed-9498530 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-94985302022-09-23 Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study Ricci, Silvia Sarli, Walter Maria Lodi, Lorenzo Canessa, Clementina Lippi, Francesca Azzari, Chiara Stagi, Stefano Genes (Basel) Article Background. Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is the most frequent microdeletion syndrome and is mainly characterized by congenital cardiac defects, dysmorphic features, hypocalcemia, palatal dysfunction, developmental delay, and impaired immune function due to thymic hypoplasia or aplasia. Thyroid anomalies are frequently reported in patients with 22q11.2DS, although only a few well-structured longitudinal studies about autoimmune thyroid disease (ATD) have been reported. Aim. To longitudinally evaluate the frequency of thyroid anomalies and ATD in patients with 22q11.2DS. Patients and Methods. Pediatric patients with a confirmed genetic diagnosis of 22q11.2DS were recruited and followed up on longitudinally. Clinical, biochemical, and immunological data were collected, as well as thyroid function, autoimmunity, and thyroid sonographic data. Results. The study included 73 children with 22q11.2DS, with a mean follow-up duration of 9.51 ± 5.72 years. In all, 16 of the 73 enrolled patients (21.9%) developed ATD before 18 years of age (mean age 12.92 ± 3.66 years). A total of 20.5% developed Hashimoto’s Thyroiditis (HT), of whom 50% required L-thyroxine treatment; 1.4% developed Graves Disease. Thyroid hypoplasia was found in 6/16 patients with ATD and left lobe hypoplasia in 9/16 patients. These features were also found in patients affected by 22q11.2DS without ATD. Among patients who developed ATD, at the first altered ultrasound scan, the most frequent anomalies suggestive of thyroiditis were inhomogeneous echotexture, diffuse or irregular hypo-echogenicity, and vascular overflow. Conclusion. We strongly recommend periodic screening of thyroid function and for autoimmunity in patients affected by 22q11.2DS. Along with blood tests, ultrasound scans of the thyroid gland should be performed periodically since some patients who go on to develop an ATD could have specific anomalies on ultrasound prior to any other anomaly. MDPI 2022-08-28 /pmc/articles/PMC9498530/ /pubmed/36140720 http://dx.doi.org/10.3390/genes13091552 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Ricci, Silvia Sarli, Walter Maria Lodi, Lorenzo Canessa, Clementina Lippi, Francesca Azzari, Chiara Stagi, Stefano Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study |
title | Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study |
title_full | Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study |
title_fullStr | Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study |
title_full_unstemmed | Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study |
title_short | Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study |
title_sort | characterization of autoimmune thyroid disease in a cohort of 73 paediatric patients affected by 22q11.2 deletion syndrome: longitudinal single-centre study |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498530/ https://www.ncbi.nlm.nih.gov/pubmed/36140720 http://dx.doi.org/10.3390/genes13091552 |
work_keys_str_mv | AT riccisilvia characterizationofautoimmunethyroiddiseaseinacohortof73paediatricpatientsaffectedby22q112deletionsyndromelongitudinalsinglecentrestudy AT sarliwaltermaria characterizationofautoimmunethyroiddiseaseinacohortof73paediatricpatientsaffectedby22q112deletionsyndromelongitudinalsinglecentrestudy AT lodilorenzo characterizationofautoimmunethyroiddiseaseinacohortof73paediatricpatientsaffectedby22q112deletionsyndromelongitudinalsinglecentrestudy AT canessaclementina characterizationofautoimmunethyroiddiseaseinacohortof73paediatricpatientsaffectedby22q112deletionsyndromelongitudinalsinglecentrestudy AT lippifrancesca characterizationofautoimmunethyroiddiseaseinacohortof73paediatricpatientsaffectedby22q112deletionsyndromelongitudinalsinglecentrestudy AT azzarichiara characterizationofautoimmunethyroiddiseaseinacohortof73paediatricpatientsaffectedby22q112deletionsyndromelongitudinalsinglecentrestudy AT stagistefano characterizationofautoimmunethyroiddiseaseinacohortof73paediatricpatientsaffectedby22q112deletionsyndromelongitudinalsinglecentrestudy |