PMID: 9427897Jan 15, 1998Paper

Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism

The Journal of Pediatrics
K O SchwabM J Lohse

Abstract

Congenital hyperthyroidism is a rare, transient disease usually caused by transmission of thyrotropin receptor autoantibodies from the mother with Graves' disease to her child. We report a German women and her two sons who had congenital, but persistent hyperthyroidism without any signs of autoimmunity. Direct sequencing of the polymerase chain reaction-amplified exon 10 of the thyrotropin receptor genomic DNA revealed in the mother and both sons a transition of GCC to GTC, resulting in an exchange of alanine 623 to valine. This germline mutation in a highly conserved region of the thyrotropin receptor resulted in a constitutive activation of the cyclic adenosine monophosphate-generating cascade with resulting hyperthyroidism. Analysis of the family for a corresponding BstXI restriction-site polymorphism revealed heterozygosity for this mutation in the affected family members, but not in the father or other relatives. We conclude that whenever congenital hyperthyroidism is persistent and parameters of autoimmunity are absent, a constitutively active thyrotropin receptor mutation should be considered. Treatment appears to require aggressive means such as total thyroidectomy or ablation by 131iodine because two subtotal thyroidec...Continue Reading

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Citations

Sep 6, 2000·Clinical Endocrinology·J H Lazarus, A Kokandi
Jul 10, 2001·Thyroid : Official Journal of the American Thyroid Association·T NagashimaA Morikawa
Aug 14, 1999·Thyroid : Official Journal of the American Thyroid Association·D Zimmerman
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May 10, 2008·Thyroid : Official Journal of the American Thyroid Association·Hulya Iliksu GozuRalf Paschke
Feb 12, 2010·Thyroid : Official Journal of the American Thyroid Association·Rita BertalanKároly Rácz
Oct 12, 2010·Thyroid : Official Journal of the American Thyroid Association·Eijun NishiharaBasil Rapoport
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Oct 13, 2021·The Journal of Clinical Endocrinology and Metabolism·Juliane LégerJean-Claude Carel

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