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Published on: February 9, 2024
Diagnostic re-evaluation of children with congenital hypothyroidism
Priya S Nair1, S Sobhakumar, Lalitha Kailas
1Department of Pediatrics, SAT Hospital, Medical College, Thiruvananthapuram, India. priyanishanth@gmail.com
Insights
Fifty percent of children diagnosed with congenital hypothyroidism may no longer require thyroid hormone supplementation. This study investigated causes and frequency of transient vs. permanent congenital hypothyroidism in children over three years old.
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Thyroid Disorders
Background:
- Congenital hypothyroidism (CH) requires lifelong thyroid hormone replacement.
- Determining the cause and persistence of CH is crucial for management.
- Early diagnosis and treatment are vital for neurodevelopmental outcomes.
Purpose of the Study:
- Investigate the etiologies of CH in children over three years of age.
- Determine the frequency of transient versus permanent CH in this cohort.
- Identify factors that predict the persistence of CH.
Main Methods:
- Hospital-based observational study in a pediatric endocrine clinic.
- Evaluated children over three years old on CH treatment.
- Utilized thyroid function tests, ultrasound, and scintigraphy to diagnose CH causes and persistence.
Main Results:
- 50% of children (18/36) had transient hypothyroidism.
- Thyroid agenesis was identified in 41.7% (15/36) of cases.
- Higher initial TSH levels were associated with permanent CH (P=0.002).
Conclusions:
- Thyroid hormone supplementation can be discontinued in 50% of children with CH.
- Etiological investigation is essential for optimizing CH management.
- Transient CH is a significant proportion of cases in older children.
Objectives:
To investigate the causes of congenital hypothyroidism in children more than 3 years of age and to document the frequency of transient vs permanent hypothyroidism.
Design:
Hospital based observational study.
Setting:
Pediatric endocrine clinic of a medical college.
Patients:
Children over 3 years of age, on treatment for congenital hypothyroidism.
Intervention:
Thyroid function test (TFT) and thyroid ultrasound was done. Children with agenesis or hemiagenesis in thyroid ultrasound were identified. In children with normal or equivocal thyroid ultrasound, thyroxine was stopped and followed. Children with abnormal TFT on follow up had thyroid scintigraphy with or without potassium perchlorate discharge, after which, thyroid hormone supplement was restarted. Children who remained euthyroid on follow up were labeled as having transient hypothyroidism.
Main Outcome Measure:
Proportion of children with transient hypothyroidism.
Results:
Among 36 children studied (20 boys and 16 girls), eighteen (50%) had transient hypothyroidism and fifteen (41.7%) had thyroid agenesis. There was one with hemiagenesis, one with ectopic thyroid and another with dyshormonogenesis (2.8% each). Initial TSH level at the time of diagnosis was higher in permanent hypothyroidism as compared with transient group (83.0 ± 31.6 vs 47.0 ± 33.1 mIU/mL; P= 0.002).
Conclusions:
Thyroid hormone supplementation could be discontinued in 50% of children diagnosed with congenital hypothyroidism.
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