Turner Syndrome (TS) is a relatively common chromosomopathy and according to epidemiological studies the prevalence of Autoimmune thyroiditis (AIT) in TS fluctuates from 10% to 21% versus 1.3% in the general population.
Objective: to retrospectively evaluate thyroid autoimmune disorders and thyroid function in a group of 93 TS patients.
to compare the prevalence of AIT and thyroid dysfunction in subgroups of TS according to karyothype.
Patients and method: *93 girls diagnosed with TS in the Pediatric Endocrinology Department of the C. I. Parhon National Institute of Endocrinology were evaluated every 6 months: TSH, FT4 and ATPO, ATGL where measured. The follow-up period: 6 months 6 years. Patterns of thyroid function where classified according to TSH and FT4 values into: 1) euthyroidism: TSH, FT4 into the normal limits; 2) subclinical hypothyroidism (SH): normal FT4 and high TSH; 3) frank hypothyroidism: high TSH together with low FT4. TS patients were divided in three groups according to karyothype
karyothype 1: 45X
karyothype 2: X abnormalities
karyothype 3: mosaicisms
Results: AIT have been documented in 28,7% of TS patients group. According to karyothype AIT was more frequent in X abnormalities compared with 45X and mosaicisms: 35,7% vs. 25,8% and 31,8% respectively. The difference was not statistically significant. Age for AIT diagnosis was > 10 years in at least 80% of patients in all the groups, and median age was smaller in karyothype 2- 11.53 vs 14.36 in karyothype 1 (P=0.09). Hypothyroidism was present in 67% of TS with AIT: SH in 18.2% and frank hypothyroidism in 48.2%. According to karyothype, hypothyroidism was more frequent in karyothype 2 and 3 83% compared with type 1 karyothype 53,3%. Median age at diagnosis of hypothyroidism in AIT TS subgroups was significantly different: 8,26 Y in karyothype 2 vs 12,51 and 12,9 in karyothype 1 and 3 (P=0.01). Associated autoimmune disorder was celiac disease found in 3 TS patients (3,2%), one in each karyothype subgroup.
Conclusions: We confirm the increased prevalence of AIT (28,7%) and hypothyroidism (67%) in our 93 patients with TS. In our TS group the prevalence on AIT was higher in X abnormalities karyothype and median age at hypothyroidism diagnosis was significantly lower (P=0.01) in this karyothype. Our results support the importance of close monitoring of TS patients for autoimmune thyroid diseases and thyroid function.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology