congenital hypothyroidism due to dyshormonogenesis type 1

Introduction

See cretinism (congenital hypothyroidism)

Pathology

• inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma & the thyroid gland

Genetics

• associated with defects in SLC5A5 are the cause of congenital hypothyroidism due to dyshormonogenesis type 1

More general terms

• cretinism (congenital hypothyroidism)

Database

• OMIM: https://mirror.omim.org/entry/274400