Hypothyroidism Is Common in Turner Syndrome: Results of a Five-Year Follow-Up

Abstract

Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the karyotype 45,X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS.

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

“…Conductive hearing loss (CHL), defined as an airbone gap of >10 dB of hearing loss, is common due to middle-ear effusion, frequent OM and tympanic membrane pathology and is most commonly seen in younger age (359). Middle-ear disease has been reported in 9-66% of the patients studied (341, 346).…”

“…The mechanism(s) whereby X-chromosomal monosomy give(s) rise to autoimmunity remain(s) unknown. However, data that compare women with TS to those with primary ovarian failure suggest that, while the absence of a second X chromosome is a major contributor to the autoimmunity, there may be an association between ovarian failure per se and chronic lymphocytic thyroiditis (359)…”

Turner Syndrome and Celiac Disease: A Case-Control Study

“…3 Turner syndrome (TS) (complete or partial chromosome X monosomy) is the most common sex chromosome abnormality in females, with a worldwide incidence of ∼1 in 2500 live-born females. 4 Classic manifestations of TS include short stature, ovarian failure, cardiovascular disease, and an increased risk of several autoimmune diseases, such as hypothyroidism 5,6 and type 1 diabetes. 7 Since the 1970s, several reports have indicated an association between TS and CD.…”

Hashimoto Thyroiditis in Childhood – Review of the Epidemiology, Genetic Susceptibility and Clinical Aspects of the Disease

“…The most prevalent autoimmune disorder in Turner syndrome appears to be chronic autoimmune thyroiditis, with a reported thyroid autoantibody incidence in 30-50% of patients. Hypothyroidism of autoimmune origin is so common in Turner syndrome that almost every second Turner syndrome woman will probably develop hypothyroidism, and it will increase with age [15,16].…”