Introduction: Turner syndrome (TS) is one of the most common chromosomal abnormalities, characterized by systemic involvement and susceptibility to some disorders that begin or progress in adult life. These lead to an increase in morbidity and mortality and a decrease in quality of life. The aim of this study was to analyse the profile of women with TS, who are currently followed in endocrinology, regarding: karyotype, age, final height and weight, puberty and fertility, and most prevalent comorbidities.
Methods: Retrospective cohort study of 74 women with TS followed in outpatient. Statistical analysis in SPSS,v.23 with correlation between karyotype and most frequent comorbidities.
Results: 74 women with TS were followed, with a mean age of 35.5±10.7 years. The age at diagnosis was 12.8±6.15years. The karyotypes are: 45X at 39.2% (n=29), with deletion at 27% (n=20) and mosaicisms at 33.8% (n=25). Regarding the anthropometric data, the final height was 145.3±7.2 cm and currently 32.4% (n=24) are overweight and 24.3% (n=18) obese. Gonadal dysgenesis is common, with 86.5% (n=64) under long-term hormone replacement therapy. Spontaneous puberty occurred in 12.2% (n=9) and one woman had a successful pregnancy. Amongst the most prevalent comorbidities, the metabolic disorders are: diabetes in 13.6% (n=10), only one patient with DM1, and dyslipidaemia in 63.5% (n=47). Thyroid disease: Hypothyroidism in 45.9% (n=34) by autoimmune thyroiditis. Osteometabolic disease: osteoporosis in 29.7% (n=22) and osteopenia in 31.1% (n=23). Cardiovascular: bicuspid aortic valve with aortic insufficiency in 10.8% (n=8) and coarctation of the aorta in 12.2% (n=9). Genito-urinary: horseshoe kidney in 4.1% (n=3) and 27% (n=20) with recurrent pyelonephritis. Dermatologic: nevi in 89.2% (n=66). Ophthalmologic: refractive error in 41.9% (n=31). Otorhinolaryngological: repetitive otitis in 54.1% (n=40) and 50% (n=37) with decreased auditory acuity. Neoplasms: 2 melanomas, 2 ovary dysgerminoma, 1 Willms tumour, 1 endometrial neoplasia, 1 gonadoblastoma, 1 appendix carcinoid. Psychosocial and cognitive: 35.2% (n=26) with basic education and 23% (n=17) higher education. 60.8% (n=45) with cognitive deficit and 14.9% (n=11) with depression. 79.7% (n=59) are single and 16.2% (n=12) are married. The monosomy 45X, compared to deletions or mosaic karyotypes, is more often associated with: atrioventricular block (P=0.048) and coarctation of the aorta (P=0.048)and less frequently with spontaneous puberty (P=0.006).
Conclusions: The most frequent comorbidities were: dyslipidaemia, hypothyroidism, nevi, refractive errors, repetitive otitis, and cognitive deficit. The follow-up in outpatient endocrinology clinics and the multidisciplinary approach to women with Turners syndrome becomes essential for early diagnosis and early treatment of life-long comorbidities, as well as preventive counselling.
18 - 21 May 2019
European Society of Endocrinology