HIPOTIROID KONGENITAL

Hendra Purnasidha Bagaswoto, dr. S. Yudha Patria, Ph.D, Sp.AK.; dr. Ekawaty Lutfia Haksari, MPH, Sp.AK

2016 | Tesis-Spesialis | S2 Ilmu Kesehatan anak

Hipotiroid kongenital merupakan penyebab paling sering retardasi mental yang dapat dicegah. Luaran perkembangan saraf umumnya normal jika penegakan diagnosis serta terapi diberikan sejak minggu awal kelahiran. Hormon tiroid berperan sangat penting dalam perkembangan fungsional dan kematangan sistem saraf pusat terutama pada 2-3 tahun pertama kehidupan. Pada laporan kasus ini, pasien adalah anak perempuan berusia 11 bulan yang telah didiagnosis sebagai hipotiroid kongenital sejak saat berusia 4 hari. Pasien mendapat terapi L-tiroksin secara rutin dan pemantauan kadar TSH serta FT rutin sampai dengan usia 3 tahun. Selama pemantauan pertumbuhan, status gizi, dan perkembangan anak baik, tes fungsi pendengaran normal, tetapi bone age terlambat. Saat sudah berusia >3 tahun pasien menjalani pemeriksaan ultrasonography (USG) tiroid dengan hasil menunjukkan ukuran dan anatomi kelenjar tiroid yang normal. Hasil trial off therapy mendukung kecurigaan ke arah dishormonogenesis, sehingga pasien memulai kembali terapi L-tiroksin.

Congenital hypothyroidism is the most common cause of preventable mental retardation. Normal neurodevelopmental outcome will be achieved if diagnosis and treatment is given from the beginning weeks of birth. Thyroid hormones play an important role in the development of functional and maturation of the central nervous system, especially in the first 3 years of life. In this case report, the patient was a 11 month old girl who has been diagnosed as congenital hypothyroidism since the age of 4 days. Patients receive L-thyroxine therapy on a regular basis and monitoring of TSH and FT4 routinely until the age of 3 years. During monitoring period, the growth, nutritional status, and development of children is well with normal test of hearing function, except she had a delayed bone age. When she reach 3 years of age, she underwent ultrasonography (USG) of thyroid with the results suggest normal size and anatomy of the thyroid gland. The results of the trial off therapy supports the suspicion towards dishormonogenesis, so patients restarted therapy L-thyroxine.

Kata Kunci : congenital hypothyroidism, trial off therapy, dishormonogenesis