| dc.description.abstracteng | Introduction: The Ullrich-Turner-Syndrome (UTS) is caused by the complete or partial absence of the second X-chromosome and associated with multiple comorbidities. Dwarfism (average 20 cm smaller than normal) and delayed or missing puberty are the main characteristics of all karyotypes. The main focus of therapy during childhood is treatment of the serious dwarfism. After transition, medical care is often problematic.
Methods:
In this study, data on age, height, parents´ height, karyotype, bone mineral density and more parameters from 258 UTS-patients (treated between 2001 and 2017) from five endocrinologic centers (Göttingen, Hannover, Berlin, Hamburg, Frankfurt) were analyzed retrospectively. The aim of this study was to record the quality of medical care in women with UTS. Additionally, we analyzed influencing factors on final height, on increased liver values and on bone mass density.
Results: The women in this study were 29.8±11.6 years old. The mean height of the women with UTS was 152±7.7cm and the body mass index (BMI) was 26.6±6.3 kg/m2. 50% were overweight and 25% obese. In 3.1% diabetes was diagnosed and in 8% glucose-intolerance. The karyotype was known in 50% of patients (X0 in 33%). We find cardiovascular disorders in 28%. 42% underwent echocardiography and 8.5% cardiac magnetic resonance imaging (MRI). Here the percentage of women getting cardiac diagnostic differ between the five centers. Autoimmune thyroiditis was diagnosed in 37% (age: 189.4 years). Adult height was influenced by the duration of hGH therapy (increase in height per year with hGH therapy: 1.08 cm), parents’ height and menarche (father: p=0.007; mother: p<0.0001, spontaneous/induced: p<0.015). Women, treated with hGH, had a lower LDL-level (p<0,0001), no difference was found concerning BMI or HbA1C. Liver values were increased in 52%, correlating to LDL (p<0.0001) and to patients’ age (p<0.0001). Concerning bone mass density, DXA was available in 18% of the patients. Here 50% had osteopenia and 19% osteoporosis. No correlation between age, patients’ height, menarche, kind of estrogen-substitution, hGH-therapy or vitamin-d level was found.
Conclusion: The deficient documentation relating to comorbidities in adult women with UTS, such as cardiovascular risk, underlines the inadequate medical care of women with UTS and demonstrates the need for intervention to optimize care. In context of this study, a documentation form has been created, improving medical care and documentation in women with UTS. Concerning our analyses: UTS-Girls might benefit from a long hGH therapy regarding their final height, therefore an early start of growth therapy is desirable. The influence of the spontaneous menarche on final height should be examined more closely in future. Increased liver values correlate significantly to age and LDL-level. Bone mass density was reduced, regardless of age. Vitamin D was below the preventive level despite substitution. Because of the low number of patients involved in these analyses concerning bone density, further studies should evaluate our results. | de |