Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia

Hormone Research
J LeclèreG Faure

Abstract

Activating mutations of TSH-R have been described in toxic nodules and more recently in familial nonautoimmune thyrotoxicosis. This last entity is still confused with familial Graves' disease and the aim of this study is to define its phenotype. Based on 49 patients coming from our first family and on the 4 other kindreds secondarily described in the literature, the phenotypic expression is: a high incidence of hyperthyroidism, an early onset of disease, a higher men/women ratio (17/32) than in Graves, disease, the absence of ophthalmopathy and of circulating and intrathyroid signs of immunity, a pathology similar to toxic nodule, the need for a total destruction of thyroid tissue to cure the patients. The total analogy with toxic nodule leads us to name this new entity "toxic hyperplasia'. Among 92 successive diffuse nonfamilial thyrotoxicosis cases (initially considered as Graves) we isolated 5 cases without extra- and intrathyroidal autoimmunity, raising the question of the existence of an apparent "sporadic' form of toxic hyperplasia (neomutation?).

Citations

Jan 27, 1999·Thyroid : Official Journal of the American Thyroid Association·M Polak
Sep 11, 1999·Thyroid : Official Journal of the American Thyroid Association·D FührerR Paschke
Feb 24, 2001·Thyroid : Official Journal of the American Thyroid Association·D FuhrerM Ludgate
Sep 29, 2005·Thyroid : Official Journal of the American Thyroid Association·Maren ClausDagmar Führer
Jun 8, 2006·Thyroid : Official Journal of the American Thyroid Association·Benjamin U NwosuSusanne Neumann
May 10, 2008·Thyroid : Official Journal of the American Thyroid Association·Hulya Iliksu GozuRalf Paschke
Oct 12, 2010·European Journal of Endocrinology·A HébrantJ Leclère
Jun 8, 2001·The Journal of Pediatrics·E W LeschekG B Cutler
Apr 4, 2006·Hormone Research·Michel PolakDominique Luton
Jul 29, 2008·Journal of Pediatric Endocrinology & Metabolism : JPEM·Jeremy ChesterSamuel Refetoff
Mar 22, 2001·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·L SchaeferH Kresse
Nov 13, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Doris TahaLeigh Anne Flore

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.