Endocrine Abstracts

Nonautoimmune hyperthyroidism (NAH) inherited as an autosomal dominant trait can result from activating germline mutations in the thyrotropin receptor (TSHR) gene. Clinical features described include nonremitting thyrotoxicosis, absence of the features of autoimmune thyrotoxicosis, advanced bone age and increased growth velocity. We report a family with a heterozygous germline mutation of the TSHR gene resulting in the substitution of serine (AGC) by asparagine (AAC) at codon ...