Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome.

ABSTRACT:

Background

Congenital hypothyroidism of thyroidal origin (CHT) is a common disorder in pediatric endocrinology practices, which can be difficult to manage. Elevated thyrotropin (TSH) concentrations are in the great majority of cases explained by poor compliance to levothyroxine therapy.

Methods

Case description.

Results

We present a boy with CHT, with 2 heterozygous mutations in the TSH receptor gene, who showed persistently elevated TSH concentrations and psychomotor retardation, initially misinterpreted as malcompliance. At the age of 4 years, he was diagnosed with adrenal insufficiency, wherefore a broad diagnostic search was initiated. After the start of glucocorticoid replacement therapy, his TSH normalized and the levothyroxine could be lowered. At the age of 6

SUBMITTER: van Tellingen V 

PROVIDER: S-EPMC5296928 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature