hyperthyroxinemia, familial dysalbuminemic
MONDO:0014448
An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.
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Familial dysalbuminemic hyperthyroxinemia
Familial dysalbuminemic hyperthyroxinemia (FDH) rare genetic condition that is a common cause of euthyroid hyperthyroxinemia and is associated with mutations in the human serum albumin gene. It is an autosomal dominant condition that is often mistaken for resistance to thyroid hormone (RTH) syndromes or hyperthyroidism. FDH is characterized by high levels of thyroxine (T4) and normal levels of thyroid stimulating hormone (TSH). Due to the mutations in the albumin gene, an abnormal albumin protein binds thyroid hormones with a high affinity than normal. This explains why those with familial dysalbuminemic hyperthyroxinemia have increased T4 levels and normal TSH levels.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.