THE IMPORTANCE OF CONGENITAL HYPOTHYROIDISM SCREENING ON NEWBORN
Dini Wahyudini,Frida Soesanti
Faculty of Medicine Universitas Indonesia Cipto Mangunkusumo Hospital
Background : Congenital hypothyroidism is one of the most common preventable causes of mental retardation in children. Clinical manifestations are often subtle. The slow development of obvious clinical symptoms coupled with early treatment led to the need of widespread newborn screening for this condition.
Case Presentation Summary : Two congenital hypothyroidism patients with different outcome will be presented. First patient, born at term in primary healthcare, had high level of TSH (76.6 µIU/mL) obtained from congenital hypothyroidism screening program at the age of 48 hours. Jaundice and protruding tongue were notice at the age of 6 days. Congenital hypothyroidism diagnosis was confirmed at Cipto Mangunkusumo Hospital (CMH) and levothyroxine treatment started at the age of 12 days. Now he is 6 months old with normal growth and development. Second patient was born at term in private hospital without newborn screening. Due to jaundice, he was hospitalized in two different hospitals at the age of 1 week for a total of 8 days. Clinical manifestations recognized at the age of 2 weeks. He was less active, had constipation, feeding difficulties, macroglossia, and umbilical hernia. He regularly visited pediatrician for medical examination and vaccination but blood test for hypothyroidism never been suggested. Parents brought him to CMH at the age of 4 months due to delay development. Thyroid function test showed increase TSHs level (246.906 µIU/mL) and decrease FT4 level (0.09 ng/dL). He was diagnosed as congenital hypothyroidism and soon started on levothyroxine therapy. Now he is 9 months old with normal growth but still unable to sit without support.
Learning Points/Discussion : These cases show the importance of neonatal congenital hypothyroidism screening program that is still being ignored in some areas. Most infants are asymptomatic at birth and early therapy is crucial since it can lead to significant reductions of morbidity, mortality, and irreversible mental retardation. For better outcome, nationwide newborn screening program for congenital hypothyroidism is strongly recommended.