Hyperthyroidism in a population with Down syndrome (DS)

Alberto Goday-Arno, Mariaina Cerda-Esteva, Juana Antonia Flores-Le-Roux, Juan José Chillaron-Jordan, Josep Maria Corretger, Juan Francisco Cano-Pérez

Research output: Contribution to journalArticleResearchpeer-review

57 Citations (Scopus)


Background Thyroid disorders are frequent in patients with Down syndrome (DS). It is well-known that the prevalence of hypothyroidism is high but data on hyperthyroidism are scarce. Objectives To assess the prevalence, aetiology, clinical characteristics, evolution and treatment of hyperthyroidism in a population with DS attending a specialized medical centre. Methods Data were gathered by systematic review of 1832 medical records from the Catalan DS Foundation, in Spain, registered between January 1991 and February 2006. Patients with the diagnosis of hyperthyroidism were identified and data on clinical features, physical examination, laboratory and imaging tests, treatment and evolution were collected. Results Twelve patients with hyperthyroidism were recorded (6·5 cases/1000 patients with DS). There were 5 males and 7 females, with a mean age at diagnosis of 16·8 years. The most common presenting symptoms were decreased heat tolerance, sweating, increased irritability and weight loss. All patients had diffuse goitre at physical examination and two patients presented with exophthalmia. Clinical diagnosis was confirmed biochemically. Thyroid-stimulating immunoglobulin levels were raised (mean 128·1 U/l) and imaging tests confirmed the diagnosis of Graves' disease in all cases. Patients started treatment with carbimazole at diagnosis and after a mean period of 40 months without clinical remission, they required definitive therapy with radioactive iodine. Subjects developed hypothyroidism after radio-iodine therapy and replacement therapy with levothyroxine was necessary. Conclusions Hyperthyroidism is more prevalent in patients with DS than in the general population and has no gender predominance. It is caused mainly by Graves' disease. Anti-thyroid drugs were not effective in achieving remission and radioactive iodine as a definitive treatment was required in all cases. © 2009 Blackwell Publishing Ltd.
Original languageEnglish
Pages (from-to)110-114
JournalClinical Endocrinology
Issue number1
Publication statusPublished - 1 Jul 2009

Fingerprint Dive into the research topics of 'Hyperthyroidism in a population with Down syndrome (DS)'. Together they form a unique fingerprint.

Cite this