Serum Free Thyrotropin subunit in Congenital Isolated Thyrotropin Deficiency.

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Abstract
In two patients with congenital isolated thyrotropin (TSH) deficiency, serum TSH determined by a sensitive immunoradiometric assay (IRMA) was consistently undetectable. The basis levels of serum free TSH-.alpha. subunit (TSH-.alpha.) determined by a specific radioimmunoassay (RIA) were elevated in the hypothyroid state, and decreased to the undetectable level during displacement therapy with thyroid hormone. The serum free TSH-.alpha. significantly increased following intravenous administration of TRH. Serum free TSH-.beta. subunit (TSH-.beta.) was undetectable. These findings suggest that TSH deficiency in this disease is not due to absence of thyrotroph in the pituitary gland or deficiency of TSH-.alpha., but to abnormalities of the TSH-.beta. gene.

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