Ontology highlight
ABSTRACT:
SUBMITTER: Garcia M
PROVIDER: S-EPMC5505191 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
The Journal of clinical endocrinology and metabolism 20170701 7
<h4>Context</h4>Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of thyroid-stimulating hormone (TSH) leading to low thyroid hormone synthesis. Thyrotropin-releasing hormone (TRH) receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood.<h4>Objectives</h4>Clinical and genetic characterization of a consanguineous family of Roma origin with centr ...[more]