Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis.

Area of Science:

• Pediatric Endocrinology
• Neonatal Screening
• Endocrine Disorders

Background:

• Central congenital hypothyroidism (CCH) is a rare birth defect involving thyroid hormone deficiency due to insufficient pituitary stimulation.
• While primary congenital hypothyroidism is well-researched, CCH remains understudied.

Purpose of the Study:

• To determine the prevalence of CCH in Israel.
• To characterize CCH clinical features, neonatal screening results, and patient outcomes.

Main Methods:

• A multicenter, retrospective chart review of 94 CCH patients diagnosed between 1987-2021 in Israel.
• Categorization into early (<14 days) and late (>14 days) diagnosis groups.
• Analysis of national newborn screening (NBS) data.

Main Results:

• CCH prevalence in Israel is approximately 1:42,800 live births.
• 84% of patients had multiple pituitary hormone deficiencies; only 3 infants were detected by NBS.
• Significant neurodevelopmental sequelae were observed, with no difference in outcomes between early and late diagnosis groups.

Conclusions:

• Delayed diagnosis of CCH did not correlate with worse neurodevelopmental outcomes.
• Improved newborn screening strategies are crucial for early CCH detection.
• Further research is warranted to understand the long-term neurological impact of delayed CCH diagnosis.