Searchable abstracts of presentations at key conferences in endocrinology

ea0016p722 | Thyroid | ECE2008

Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone

Bayraktaroglu Taner , Noel Janet , Alagol Faruk , Colak Nese , Mukaddes Nahhit Motavalli , Refetoff Samuel

Background: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by decreased responsiveness of target tissues to thyroid hormone. Two members of a Turkish family, a mother and son, had thyroid function tests suggestive of resistance to thyroid hormone (RTH).Methods: The clinical presentation was, however, different. The mother (proposita) had palpitation, weakness, tiredness, nervousness, dry mouth and was misdiagnosed as...