Hipotiroid Kongenital

ALEXANDER KURNIADI, dr. Mei Neni Sitaresmi, PhD., SpA(K); dr. Yudha Patria, PhD., SpA(K)

2016 | Tesis | S2 Ilmu Kedokteran Klinik

Hipotiroid kongenital menyebabkan disabilitas intelektual yang dapat dicegah apabila didiagnosis dan diterapi sejak dini. Semakin terlambat terapi dimulai, maka semakin rendah tingkat intelektual yang terjadi. Pada laporan kasus ini, pasien adalah anak laki-laki berumur 5 tahun 10 bulan yang telah didiagnosis hipotiroid kongenital sejak umur 3 bulan. Pasien mendapat terapi L-tiroksin secara rutin dan pemantauan kadar TSH dan fT4 setiap 3 bulan. Tes IQ pada pasien menunjukkan hasil yang normal, demikian pula dengan fungsi pendengaran, kecepatan pertumbuhan, dan status gizi anak. Selain pemantauan dari segi medis, pasien dengan hipotiroid kongenital juga memerlukan pemantauan kualitas hidup, penilaian gangguan perilaku, pendampingan psikologis, serta edukasi kepada orangtua demi mencapai tumbuh kembang yang optimal.

Congenital hypothyroidism causes intellectual disability that can be prevented if is diagnosed and treated in early life. The more delayed the start of therapy, the lower the intellectual level occurs. In this case report, the patient was a 5-year-old boy who had been diagnosed with congenital hypothyroidism since the age of 3 months. He got L-thyroxine therapy routinely and was monitored the levels of TSH and FT4 every 3 months. The IQ test for patient showed normal results, as well as auditory function, height velocity and nutritional status. In addition to the monitoring of medical conditions, patient with congenital hypothyroidism also requires monitoring of the quality of life, assessment of behavioral disorders, psychological counseling, and education to parents in order to achieve optimal growth and development.

Kata Kunci : hipotiroid kongenital, intelektual, disabilitas, IQ