Thyroid function in adults with Down's syndrome. 1977

J C Murdoch, and W A Ratcliffe, and D G McLarty, and J C Rodger, and J G Ratcliffe

The thyroid status of 82 institutionalized adults with Down's syndrome has been assessed. Compared to age and sex matched control subjects, these patients had significantly lower mean total serum thyroxine (T4) and triiodothyronine (T3) concentrations (T4; 69.1+/-22.2 nmol/1; (mean+/-SD) vs. 100.1+/-19.1, P less than 0.001; T13; 1.61+/-0.47 nmol/1 vs. 1.76+/-0.34, P less than 0.025), lower free thyroxine index (FTI), (FTI; 66.1+/-22.4 vs. 95.1+/-20.2, P less than 0.001), and higher basal serum thyrotrophin (TSH) concentrations (TSH; 7.6+/-10.7 mU/1 vs. 3.8+/-1.5, P less than 0.001). These changes were not related to age or sex. Abnormalities in one or more test of thyroid function were demonstrated in at least 38 (46%) of the 82 patients. Two main patterns of abnormality were defined: 1) subnormal T4, FTI and elevated basal TSH levels (primary hypothyroidism) in 13 (16%). All seven of the 13 patients in whom TRH tests were performed showed the expected exaggerated TSH response, and seven out of the 13 patients (54%) had positive thyroid antibodies, 2) Subnormal T4, subnormal or low normal FTI, and basal TSH levels within the normal range in 18 (22%). The mean basal TSH concentration was, however, significantly higher than in patients with normal T4 and FTI levels, suggesting a minor degree of thyroid failure. Only two of the 18 patients (11%) had positive thyroid antibodies. Of the 17 patients in the group tested, 13 showed a normal TSH response to TRH, three an exagerrated response (all females), and one had an impaired response. Other patterns of abnormal thyroid function were observed occasionally: one female patient had biochemical T3 toxicosis; another had the biochemical pattern of subclinical hypothyroidism, four patients with normal basal T4, FTI and TSH levels showed an exaggerated TSH response to TRH and one patient had an impaired response. These data indicate that htyroid dysfunction, in particular hypothyroidism, is common in adults with Down's syndrome, though specific tests are usually required to make the diagnosis. The general reduction in thyroid function in Down's syndrome may be due to impaired development of the thyroid gland. However, frank chemical hypothyroidism may occur only when thyroiditis is superimposed on preexisting diminished thyroid reserve.

UI MeSH Term Description Entries
D007037 Hypothyroidism A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction. Central Hypothyroidism,Primary Hypothyroidism,Secondary Hypothyroidism,TSH Deficiency,Thyroid-Stimulating Hormone Deficiency,Central Hypothyroidisms,Deficiency, TSH,Deficiency, Thyroid-Stimulating Hormone,Hormone Deficiency, Thyroid-Stimulating,Hypothyroidism, Central,Hypothyroidism, Primary,Hypothyroidism, Secondary,Hypothyroidisms,Primary Hypothyroidisms,Secondary Hypothyroidisms,TSH Deficiencies,Thyroid Stimulating Hormone Deficiency,Thyroid-Stimulating Hormone Deficiencies
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D000906 Antibodies Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).
D013961 Thyroid Gland A highly vascularized endocrine gland consisting of two lobes joined by a thin band of tissue with one lobe on each side of the TRACHEA. It secretes THYROID HORMONES from the follicular cells and CALCITONIN from the parafollicular cells thereby regulating METABOLISM and CALCIUM level in blood, respectively. Thyroid,Gland, Thyroid,Glands, Thyroid,Thyroid Glands,Thyroids

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