Congenital hypothyroidism screening program: A five-year experience at Saudi ARAMCO Al Hasa Health Center

Area of Science:

• Endocrinology
• Genetics
• Neonatal Screening

Background:

• Congenital hypothyroidism (CH) is a common treatable endocrine disorder in newborns.
• Early detection through newborn screening is crucial to prevent irreversible intellectual disability.
• Genetic homogeneity in certain populations can influence the prevalence of specific genetic disorders.

Purpose of the Study:

• To determine the prevalence of congenital hypothyroidism in a genetically homogeneous population in Saudi Arabia.
• To analyze the prevalence of specific etiological subtypes, such as dyshormonogenesis.
• To compare findings with international data for epidemiological insights.

Main Methods:

• A five-year prospective study involving cord blood screening.
• Screening targeted thyroid-stimulating hormone (TSH) levels in newborns.
• Genetic and etiological investigations for confirmed cases of CH.

Main Results:

• The overall prevalence of congenital hypothyroidism was determined to be 1 in 5061 live births.
• The prevalence of congenital thyroid hormone synthesis disorders (dyshormonogenesis) was found to be 1 in 7592.
• The identified prevalence rates were compared with existing global and regional reports.

Conclusions:

• The study establishes baseline data for congenital hypothyroidism prevalence in this specific Saudi Arabian population.
• The higher-than-reported prevalence of dyshormonogenesis warrants further investigation into potential genetic or environmental factors.
• Results highlight the importance of continued newborn screening programs for CH and its subtypes.