📂 Diseases
Thyroid dyshormonogenesis — Definition
Tiroid dishormonogenezi / Thyroid dyshormonogenesis
It is a disease caused by genetic defects of enzymes that play role in hormone synthesis in the thyroid gland. This condition leads to disruption of the production of thyroid hormones and often manifests itself with congenital hypothyroidism. The disease indicates autozomal resessive inheritance and is characterized by functional insufficiency, although the thyroid gland is structurally normal.
Disease Definition
🔬 Disease Definition
Tiroid hormon sentezindeki genetik defektler nedeniyle ortaya çıkan, otozomal resesif geçişli bir konjenital hipotiroidi nedenidir.
🧬 Causes & Risk Factors
Tiroid peroksidaz (TPO), tiroglobulin (TG), sodyum-iyot simporter (NIS), pendrin, dual oksidaz (DUOX) ve DUOXA2 genlerindeki mutasyonlar.
🩺 Symptoms & Signs
Yenidoğan döneminde uzamış sarılık, kabızlık, beslenme güçlüğü, makroglossi, umblikal herni, hipotoni, büyüme geriliği ve zeka geriliği.
📋 Diagnostic Methods
Yenidoğan taramasında yüksek TSH ve düşük serbest T4; tiroid sintigrafisinde artmış iyot tutulumu; perklorat boşaltma testi pozitifliği; genetik analiz.
💊 Treatment Options
Ömür boyu levotiroksin (L-T4) replasman tedavisi; doz yaşa ve kiloya göre ayarlanır.
⚠️ Complications
Tedavi edilmezse ağır nörolojik hasar, büyüme geriliği, işitme kaybı ve kretinizm.
Frequently Asked Questions
❓ What is Tiroid dishormonogenezi?
Tiroid dishormonogenezi; it is a disease caused by genetic defects of enzymes that play role in hormone synthesis in the thyroid gland. This condition leads to disruption of the production of thyroid hormones and often manifests itself with congenital hypothyroidism. The disease indicates autozomal resessive inheritance and is characterized by functional insufficiency, although the thyroid gland is structurally normal.
❓ What is Thyroid dyshormonogenesis in Turkish?
The Turkish equivalent of "Thyroid dyshormonogenesis" is Tiroid dishormonogenezi.
❓ Which medical field is Tiroid dishormonogenezi related to?
This term belongs to the Diseases category.