Article
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.
The Journal of pediatrics - 1 Dec 2001
Pohlenz J, Sadow P M, Koffler T, Schönberger W, Weiss R E, Refetoff S
Abstract excerpt
We found familial dysalbuminemic hyperthyroxinemia (FDH) in a 5-month-old boy with congenital hypothyroidism (CH) who had a blood thyrotropin (TSH) level of 479 mU/L but normal total serum thyroxine (T4) and higher than normal total triiodothyronine (T3) levels. Thyroid hormone substitution began at 5 weeks of age when T4 and T3 concentrations were below normal. Until the age of 5 months, treatment with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.