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Growth monitoring still has a place in selected populations of children
M Hussain1, C M John, K Mohamed
1Department of Paediatric Endocrinology, Alder Hey Children's Hospital, West Derby, Liverpool, UK.
Insights
Routine growth monitoring is crucial for children with genetic disorders, especially those at risk of thyroid dysfunction. Early detection through monitoring can prevent severe health complications in these vulnerable children.
Area of Science:
- Pediatric Endocrinology
- Clinical Genetics
Background:
- Routine serial growth measurements are not recommended for healthy children.
- A subset of children with genetic disorders may benefit from growth monitoring due to risks of growth-modifying diseases, including thyroid dysfunction.
Observation:
- A 2.8-year-old girl with 18q deletion syndrome presented with profound weakness, hypotonia, and poor responsiveness.
- At diagnosis of Grave's disease, the patient was tall with a bone age advanced by 2 years, suggesting long-standing thyroid dysfunction.
Findings:
- Symptoms of thyroid dysfunction can be non-specific and mimic features of genetic disorders.
- The patient's advanced bone age and clinical presentation indicated a delayed diagnosis of Grave's disease.
Implications:
- Growth monitoring in children with genetic disorders and at risk for thyroid dysfunction can facilitate earlier diagnosis.
- Timely diagnosis and intervention can prevent severe, potentially fatal episodes associated with untreated thyroid disease in this population.
Abstract:
In 1998, a multiprofessional group developed a consensus on growth monitoring in the UK. While routine serial measurements were not recommended in healthy children, it is clear that there is a subset of children at increased risk of growth-modifying disease who may benefit from growth monitoring. This subset includes children with genetic disorders at increased risk of thyroid dysfunction. Symptoms and signs of thyroid dysfunction are non-specific in the early stages of disease and are easily mistaken for features of an underlying genetic disorder. In this article, we report the case of a 2.8-year-old girl with 18q deletion syndrome who was profoundly weak, hypotonic and poorly responsive at diagnosis of Grave's disease. She was tall and her bone age was 2 years advanced, indicating long-standing disease. Growth monitoring of this patient should have enabled earlier diagnosis and avoided a serious and potentially fatal episode.
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