Increased prevalence of autoimmunity in Turner syndrome – influence of age

Abstract

Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions such as coeliac disease (CD), thyroiditis and type 1 diabetes (T1DM). The objective of the present study was to examine TS of various karyotypes for autoantibodies and corresponding diseases. This was investigated in a prospective cross-sectional study of Danish TS patients (n = 107, median age 36·7 years, range: 6-60 years). A medical history was recorded and a blood sample was analysed for autoantibodies against gliadin, transglutami-nase, adrenal cortex, intrinsic factor, anti-thyroid peroxidase (anti-TPO) and glutamic-acid-decarboxylase 65 (GAD-65). Autoantibodies were present in 58% (n = 61) of all patients, whereof 18% (11) had autoantibodies targeting more than one organ. Patients with autoantibodies were significantly older than those without (P = 0·001). Anti-TPO was present in 45% (48) of patients, of whom 33% (16) were hypothyroid. Overall, 18% (19) presented with CD autoantibodies, of whom 26% (five) had CD.Anti-TPO and CD autoantibodies co-existed in 9% (10). Immunoglobulin A deficiency was found in 3% (three) of patients, who all had CD autoantibodies without disease. Among four patients with anti-GAD-65 none had T1DM, but two were classified as having T2DM. One patient had adrenocortical autoantibodies but not adrenal failure. Autoantibodies against intrinsic factor were absent. Anti-GAD-65 was increased in isochromosomal karyotypes (3/23 versus 1/84, P = 0·008) with no other association found between autoantibodies and karyotype. In conclusion, TS girls and women face a high prevalence of autoimmunity and associated disease with a preponderance towards hypothyroidism and CD. Thus, health care providers dealing with this patient group should be observant and test liberally for these conditions even before clinical symptoms emerge.

Endocrine diseases, perspectives and care in Turner syndrome

“…Mortensen and cols. found a prevalence of 5% in a cohort of Turner syndrome individuals with 18% of autoantibodies, and revealed a considerable number of silent cases and delayed diagnoses (23).…”

“…Patients with TS are prone to develop autoimmune conditions such as thyroiditis, celiac disease, inflammatory bowel disease, type 1 diabetes, Grave's hyperthyroidism, ulcerative colitis, Crohn's disease, juvenile rheumatoid arthritis, psoriasis, alopecia and vitiligo (23). These patients frequently exhibit transient, recurrent and asymptomatic variations in TSH and/or thyroid hormones (24).…”

“…TS patients present central obesity (34) and a more sedentary lifestyle, and these factors may contribute to the risk of developing diabetes. Additionally, women with TS were at significantly increased risk of certain specific autoimmune diseases, including Hashimoto thyroiditis and type 1 diabetes mellitus (23). Fasting glucose and insulin levels were frequently normal despite the fact that, in adults, glucose intolerance (GI) has been found in 25%-78% during an oral glucose tolerance test (OGTT) (35,36).…”

“…Transdermal estradiol provides the most physiological form of replacement (1). If spontaneous pubertal development occurs, in most cases it is followed by progressive premature ovarian failure (23).…”

Síndrome de Turner, Tireoidite de Hashimoto e doença de Crohn em irmãs: relato de caso

“…O fenótipo da ST é altamente variável. São sinais clínicos relevantes a baixa estatura e a disgenesia gonadal, além de diversos dismorfismos, malformações, patologias adquiridas, metabólicas, ósseas e autoimunes, tais como: tiroidite, doença celíaca, doença inflamatória intestinal, diabetes tipo 1, doença de Graves, colite ulcerativa, doença de Crohn, artrite reumatóide juvenil, psoríase, alopecia e vitiligo, entre as quais destaca-se a doença tireoidea autoimune, que parece ter um amplo espectro, de hipertireoidismo a hipotireoidismo 3,4 . Os ovários de pacientes com ST podem degenerar durante a vida fetal, na infância ou no início da idade adulta, apresentando-se com infertilidade, amenorreia primária e menarca espontânea em diferentes proporções 5 .…”