Familial Gestational Hyperthyroidism Caused by a Mutant Thyrotropin Receptor Hypersensitive to Human Chorionic Gonadotropin

• Published in: The New England journal of medicine Vol. 339; no. 25; pp. 1823 - 1826
• Main Authors: Rodien, Patrice, Brémont, Catherine, Sanson, Marie-Laure Raffin, Parma, Jasmine, Van Sande, Jacqueline, Costagliola, Sabine, Luton, Jean-Pierre, Vassart, Gilbert, Duprez, Laurence
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 17.12.1998
• Subjects: Adult; Biological and medical sciences; Case studies; Chorionic Gonadotropin - blood; Chorionic Gonadotropin - physiology; Diseases of mother, fetus and pregnancy; DNA Mutational Analysis; Female; Gynecology. Andrology. Obstetrics; Heredity; Hormones; Humans; Hyperthyroidism - genetics; Medical disorders; Medical sciences; Mutation; Mutation, Missense; Pregnancy; Pregnancy Complications - etiology; Pregnancy. Fetus. Placenta; Receptors, Thyrotropin - genetics; Receptors, Thyrotropin - physiology; Recurrence; Thyroid gland; Endocrinopathy; Human; Hypersensitivity; Hyperthyroidism; Thyroid diseases; Instrumentation therapy; Thyroid stimulating hormone; Hereditary; Genetic determinism; Female genital diseases; Case study; Pregnancy; Human chorionic gonadotrophin; Association; Etiology; Radioimmunoassay; Female; Mutation
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199812173392505

Some degree of stimulation of the thyroid gland by human chorionic gonadotropin is common during early pregnancy. 1 – 3 When serum chorionic gonadotropin concentrations are abnormally high — for example, in women with molar pregnancies — overt hyperthyroidism may ensue. The pathophysiologic mechanism is believed to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. 4 , 5 The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors. 6 Hyperemesis gravidarum is characterized by excessive vomiting in early pregnancy, leading to the loss of 5 percent or more of body weight. 4 It . . .