![Sample our Medicine, Dentistry, Nursing & Allied Health journals, sign in here to start your FREE access for 14 days]({"type":"image" , "src" : "/sda/5944/TOC-Subject-Sample-2021-Medicine-Dentistry-Nursing-Allied-Health.jpg"})
Abstract
Down syndrome is the most commonly encountered human chromosomal disorder. Down syndrome is associated with thyroid dysfunction including: hypothyroidism, both congenital and acquired, and hyperthyroidism. A genetic predisposition and a propensity to acquire autoimmune disorders seem to be possible factors, though their causal relation remains unclear. The aim of the review is to describe what is currently known about the association between Down syndrome and thyroid dysfunction.
Financial & competing interests disclosure
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
No writing assistance was utilized in the production of this manuscript.
Down syndrome (DS) is the most common human chromosomal disorder that can be associated with developmental delay, cardiac, pulmonary and gastrointestinal anomalies.
Thyroid dysfunctions, resulting in both hypo- and hyperthyroidism, are considered the most frequent endocrine disorders associated with the syndrome.
Hypothyroidism in DS can be either congenital or acquired. An increased prevalence of hypothyroidism is well documented: the rate of occurrence varies from 13 to 63% with a female:male ratio of approximately 3:2.
Congenital hypothyroidism incidence in DS is around 1:100 neonates: 70% is permanent and 30% transient. Uncontrolled hypothyroidism in the neonatal period may be further detrimental to psychomotor development, somatic growth and cognition.
In children and adults with DS, there is a higher predisposition to develop hypothyroidism, usually as a consequence of autoimmunity. The probability of thyroid dysfunction seems to increase during development even if data are still controversial.
The reported incidence of hyperthyroidism in DS varies from 0.07 to 2.5%. Risk factors for the development of hyperthyroidism in DS are age (onset is rare below the age of 8 years) and female sex.
DS patients present a higher susceptibility to infections, malignancies and autoimmunity. The main features of this association involve both B and T lymphocytes (number and function), neutrophils and specific antibody responses, resulting in an impairment of immune function.
Immunological basis characterizing the higher incidence of autoimmune diseases in DS is still unclear. Autoimmune thyroid disease is the most frequent autoimmune disorder coexisting with DS.