Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome
INTRODUCTION: 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 conditi...
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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2023-03-01
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| Series: | JCRPE |
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| Online Access: | https://jcrpe.org/jvi.aspx?un=JCRPE-18291&volume=15&issue=1 |
| _version_ | 1811161489059348480 |
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| author | Juan Lasprilla Tovar Nora Alejandra Zuluaga Adriana Carolina Forero Torres Oscar Correa-Jimenez Javier Mauricio Sierra |
| author_facet | Juan Lasprilla Tovar Nora Alejandra Zuluaga Adriana Carolina Forero Torres Oscar Correa-Jimenez Javier Mauricio Sierra |
| author_sort | Juan Lasprilla Tovar |
| collection | DOAJ |
| description | INTRODUCTION: 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.
DISCUSSION AND 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. |
| first_indexed | 2024-04-10T06:15:06Z |
| format | Article |
| id | doaj.art-5fcda2f551754c99b2322df3ed44b3e7 |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-04-10T06:15:06Z |
| publishDate | 2023-03-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-5fcda2f551754c99b2322df3ed44b3e72023-03-02T08:32:49ZengGalenos YayincilikJCRPE1308-57271308-57352023-03-01151162410.4274/jcrpe.galenos.2022.2022-4-12Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion SyndromeJuan Lasprilla Tovar0https://orcid.org/0000-0002-7165-0057Nora Alejandra Zuluaga1https://orcid.org/0000-0002-4199-3286Adriana Carolina Forero Torres2https://orcid.org/0000-0001-8722-8443Oscar Correa-Jimenez3https://orcid.org/0000-0001-6007-2821Javier Mauricio Sierra4https://orcid.org/0000-0002-0486-0417HOMI Fundacion Hospital Pediatrico la Misericordia, Pediatric Endocrinologist, Colombia, South AmericaHospital San Vicente Fundación and Associate Professor, Universidad de Antioquia, Pediatric Endocrinologist, Colombia, South AmericaHospital San Vicente Fundación and Associate Professor, Universidad de Antioquia, Pediatric Endocrinologist, Colombia, South AmericaUniversidad Nacional de Colombia, Pediatric Pulmonology and Immunology Research Group, Colombia, South AmericaUniversidad de Antioquia, Department of Pediatrics, Colombia, South AmericaINTRODUCTION: 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. DISCUSSION AND 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.https://jcrpe.org/jvi.aspx?un=JCRPE-18291&volume=15&issue=122q11 deletion syndromedigeorge syndromehypoparathyroidismhypothyroidismgrowth disordersendocrine system diseases |
| spellingShingle | Juan Lasprilla Tovar Nora Alejandra Zuluaga Adriana Carolina Forero Torres Oscar Correa-Jimenez Javier Mauricio Sierra Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome JCRPE 22q11 deletion syndrome digeorge syndrome hypoparathyroidism hypothyroidism growth disorders endocrine system diseases |
| title | Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome |
| title_full | Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome |
| title_fullStr | Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome |
| title_full_unstemmed | Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome |
| title_short | Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome |
| title_sort | endocrine abnormalities and growth characterization in colombian pediatric patients with 22q11 deletion syndrome |
| topic | 22q11 deletion syndrome digeorge syndrome hypoparathyroidism hypothyroidism growth disorders endocrine system diseases |
| url | https://jcrpe.org/jvi.aspx?un=JCRPE-18291&volume=15&issue=1 |
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