In Ghana, iodine deficiency, which represents the most common cause of preventable brain damage in the world, has been virtually eliminated. As a consequence, congenital hypothyroidism (CH) secondary to dysgenesis or enzymatic defects is now likely to be the most common cause of hypothyroidism in neonates. The prevalence of CH in Ghana is however unknown. Based on data in the African American population, it is thought to be less common that in Caucasians.
Ghana and many other resource-constrained countries do not offer systematic newborn screening programs for CH. However, Ghana is now piloting a regional neonatal screening program for the early diagnosis of sickle cell disease.
The signs of CH may be absent of very modest at birth, and diagnosis is therefore completely missed or delayed in affected neonates. Only 5%10% of the cases have characteristic clinical findings at birth, preventing early treatment of CH in countries where neonatal screening is not routinely performed. However, when diagnosed and treated early, its most important complication, mental retardation, is preventable. At the present time, it is recommended that doctors and other health professionals who attend to neonates and children have high level of suspicion and screen babies for hypothyroidism based on clinical clinical signs or refer them to centers where they can be investigated and managed.
In conclusion, with the elimination of iodine deficiency, Ghana is well positioned to consider the development of a systematic screening for CH. This could conceivably be performed through point of care determination of TSH or by joining forces with the screening for sickle cell disease. TSH assay is readily available and treatment by l-thyroxine is present and affordable in Ghana.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology