Genetic causes of congenital hypothyroidism due to dyshormonogenesis
H Grasberger, S Refetoff - Current opinion in pediatrics, 2011 - journals.lww.com
H Grasberger, S Refetoff
Current opinion in pediatrics, 2011•journals.lww.comCongenital hypothyroidism due to thyroid dyshormonogenesis is a heterogenic disorder that
may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis
pathway. An exact molecular diagnosis allows genetic counseling and the identification of
asymptomatic mutation carriers at risk of recurrent hypothyroidism, and provides a rationale
for adjunct iodide supplementation.
may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis
pathway. An exact molecular diagnosis allows genetic counseling and the identification of
asymptomatic mutation carriers at risk of recurrent hypothyroidism, and provides a rationale
for adjunct iodide supplementation.
Summary
Congenital hypothyroidism due to thyroid dyshormonogenesis is a heterogenic disorder that may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis pathway. An exact molecular diagnosis allows genetic counseling and the identification of asymptomatic mutation carriers at risk of recurrent hypothyroidism, and provides a rationale for adjunct iodide supplementation.
Lippincott Williams & Wilkins