Ontology highlight
ABSTRACT:
SUBMITTER: Tajima T
PROVIDER: S-EPMC4208260 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Tajima Toshihiro T Nakamura Akie A Morikawa Shuntaro S Ishizu Katsura K
Annals of pediatric endocrinology & metabolism 20140930 3
Congenital central hypothyroidism (C-CH) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin (TSH) stimulation of a normally-located thyroid gland. Most patients with C-CH have low free thyroxine levels and inappropriately low or normal TSH levels, although a few have slightly elevated TSH levels. Autosomal recessive TSH deficiency and thyrotropin-releasing hormone receptor-inactivating mutations are known to be genetic causes of C-CH presenting in the abs ...[more]