Ali ATAŞ, Alpay ÇAKMAK, Hikmet KARAZEYBEK

Konjenital Hipotiroidizm

Konjenital hipotiroidi yenidoğan döneminde en sık görülen endokrinolojik problem olup, tanı ve tedavide gecikmeyle orantılı olarak geri dönüşümsüz mental retardasyona neden olur. Tanı ve tedavi açısından yenidoğan taramaları önemli olup, ülkemizde Aralık 2006 tarihinde TSH ölçümüne dayalı, konjenital hipotiroidi yenidoğan taraması başlatılmıştır. Tarama sonuçlarının yorumlanması önemlidir. Tedavide L-tiroksin kullanılmakta olup, başlangıçta 10-15 µg/kg dozunda önerilmektedir. Etiyoloji, hastalığın sonuçları kadar tanı anındaki hastalığın ciddiyeti ile de önemli oranda ilişkili gözükmektedir. Tedavi ile, olabildiği kadar kısa sürede TSH’ın normal düzeye inmesi amaçlanmaktadır. Tedaviye uyum prognoz açısından önemlidir. Tiroid dokusunun ektopik veya atrezik olması gibi kalıcı nedenler dışındaki vakalar, 3 yaşında tedavileri 4 hafta kesilerek tekrar değerlendirilmelidir

Anahtar Kelimeler:

Konjenital, hipotiroidizm

Congenital Hypothyroidism

Congenital hypothyroidism is the most common endocrine problem which leads to irreversible mental retardation. Newborn screening is important for early diagnosis and treatment. TSH measurement based Newborn Screening Program wasinitiated in December 2006 in our country. Evaluation of the newborn screening test result is important for diagnosis. Administration of thyroxin is the treatment of choice. An initial dosage of 10 to 15 µg/kg has been recommended. The etiology of congenital hypothyroidism has been seen to play an important role in determining both the disease severity atdiagnosis as well as its outcome. With the therapy, TSH normalization is aimed as quickly as possible. Compliance is important for its outcome. Congenital hypothyroidism is permanent if the thyroid scan reveals an ectopic gland or absentthyroid tissue. Otherwise, at the age of 3, thyroxin administration may be discontinued for four weeks to reevaluate thethyroid function tests

Keywords:

Congenital, hypothyroidism,

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