Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome—a questionnaire survey by the Foundation for Growth Science—

Abstract

The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25.2%), inflammatory bowel disease (1.8%), congenital cardiovascular anomaly (11.8%), urinary tract malformation (11.8%), low bone mineral density (BMD) (42.9%), scoliosis (8.4%), hearing loss (6.2%), epilepsy (2.8%) and schizophrenia (0.9%). The majority of prevalence of these diseases in TS was higher than in the general population. In distribution, the most frequent karyotype was 45,X monosomy (28.9%), followed by 45,X/46,X,Xi (16.9%), 46,X,Xi (9.1%), and 45,X/46,XX (6.3%), while other mosaic 45,X was noted in 29.9%. Regarding the karyotype, cardiovascular anomaly was more frequent in the 45,X group and less in the 46,X,Xi group. Urinary tract malformation and epilepsy were frequently associated with the chromosome 45,X. The prevalence of low BMD was noticed more in the chromosome 46,X,Xi and 45,X/46,X,Xi, and less in other mosaic 45,X. In conclusion, the more exact prevalence of diverse complications was clarified and it exceeded the prevalence of the majority of complications in general population. As novel findings, it was observed that the prevalence of epilepsy was significantly high, and epilepsy and low BMD were frequently associated with the specific karyotypes.

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

“…Consistent with most (17,25,35,37), but not all previous studies (26,27,29,32,38), autoimmune thyroid disease was more frequently observed in 45,X/46,isoXq and 45,X patients. Our findings also provide the first precise information about the increase in celiac disease frequency with age in patients with 45,X/46,isoXq, 46,X,r(X)/46,XX and 45,X karyotypes.…”

“…The importance of X chromosome gene dosage as a risk factor for congenital and acquired comorbid conditions was not previously recognized in some studies, as the relatively small number of patients studied and differences in patient age made it difficult to describe the complete spectrum according to karyotype accurately (11,12,13,14,15,16,17,18,19,20,26,27). For acquired conditions, some studies focused on pediatric patients only (12,16,20), whereas others analyzed young or middle-aged women (14,28,29,30,31). Moreover, with few exceptions (26,27,32,33,34,35), most of these studies were transverse in nature, precluding the evaluation of age at onset for each comorbidity and the relationship to the different karyotypes.…”

Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study

“…The X-chromosome contains several genes involved in neuronal morphogenesis, neuroanatomical abnormalities, and epilepsy [2]. However, epilepsy is unusual in TS, with a morbidity rate of approximately 2-3% [3,4]. TS with epilepsy is frequently associated with structural brain abnormalities and mosaicism karyotype [5][6][7][8][9][10][11][12][13].…”

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

“…Stoklasova et al analyzed the relation between karyotypes and autoimmune diseases in a cohort of 286 Czech TS females and found that isolated Xp deletion and triple X mosaicism are related to an increased risk of AITDs [33]. Nevertheless, other authors did not find any evidence of correlation between TS karyotypes and autoimmune diseases [37,39,[42][43][44][45]47,48,54,55,57,78,89] (Table 1).…”