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The Burden of Congenital Hypothyroidism Without Newborn Screening: Clinical and Cognitive Findings from a Multicenter
Adel Djermane1,2, Yasmine Ouarezki1,2, Kamelia Boulesnane1,3
1Faculty of Medicine, University of Health Science, Algiers 16028, Algeria.
Insights
Delayed diagnosis of congenital hypothyroidism (CH) in Algeria leads to significant neurodevelopmental issues. Implementing newborn screening for CH is crucial for early intervention and improved outcomes in children.
Area of Science:
- Pediatrics
- Endocrinology
- Public Health
Background:
- Congenital hypothyroidism (CH) diagnosis is often delayed without newborn screening (NBS).
- Delayed diagnosis and treatment of CH can cause irreversible neurodevelopmental damage.
- Algeria currently lacks biochemical NBS for CH.
Purpose of the Study:
- To determine the age at diagnosis for CH in Algerian children.
- To describe the clinical, biological characteristics, etiology, and outcomes of CH in Algeria.
- To highlight the need for biochemical NBS for CH in Algeria.
Main Methods:
- Multicenter retrospective cohort study.
- Involved 288 children diagnosed with CH across 20 pediatric centers (2005-2023).
- Data collected on diagnosis age, clinical presentation, treatment, and neurodevelopmental outcomes.
Main Results:
- Median age at CH diagnosis was 1.6 months; only 28% started treatment before 30 days.
- Prolonged neonatal jaundice was the most common symptom (58%); 35% had severe CH.
- Median IQ was 86, with 11% having IQ < 70; delayed diagnosis correlated with lower IQ (r = -0.48, p = 0.001).
- 51% of children reassessed at age 3 had transient CH.
Conclusions:
- Delayed diagnosis and suboptimal treatment of CH are significant issues in Algeria.
- These delays contribute to substantial neurodevelopmental deficits in affected children.
- Pediatricians need to recognize early CH signs, and biochemical NBS for CH is urgently required in Algeria.
Abstract:
The absence of biochemical newborn screening (NBS) delays the diagnosis and treatment of congenital hypothyroidism (CH), resulting in irreversible neurodevelopmental damage. To determine the age at diagnosis for CH among Algerian children and to describe its clinical and biological characteristics, etiology, and outcome, we conducted a multicenter retrospective cohort study involving 288 children with CH across 20 pediatric centers between 2005 and 2023. The median age at diagnosis was 1.6 months, and only 28% of patients started treatment before 30 days. Prolonged neonatal jaundice was the most frequently presented symptom (58%), severe CH (fT4 < 5 pmol/L) was observed in 35% and 52% received an insufficient initial dose of L-T4. The median IQ of the 47 patients tested was 86; 11% had an IQ < 70, and a negative correlation was found between age at diagnosis and IQ (r = -0.48, p = 0.001). In children reassessed at age 3, 51% had normal thyroid function, indicating transient CH. Delayed diagnosis and suboptimal treatment of CH remain major challenges in Algeria, leading to substantial neurodevelopmental deficits. Pediatricians must remain cognizant of early clinical signs of CH to allow for timely diagnosis and intervention. Biochemical NBS for CH in Algeria is needed.
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