Abstract
ObjectiveTurner syndrome (TS) is characterized by the complete or partial loss of the second sex chromosome and associated with a wide range of clinical manifestations. We aimed to assess the medical care of adult patients with TS in Germany.DesignRetrospective multicenter observational study.MethodsData were collected from medical records of 258 women with TS treated between 2001 and 2017 in five non-university endocrinologic centers in Germany.ResultsMean age was 29.8 ± 11.6 years, mean height 152 ± 7.7 cm, and mean BMI 26.6 ± 6.3 kg/m2. The karyotype was known in 50% of patients. Information on cholesterol state, liver enzymes, and thyroid status was available in 81–98% of women with TS; autoimmune thyroiditis was diagnosed in 37%. Echocardiography was performed in 42% and cardiac MRI in 8.5%, resulting in a diagnosis of cardiovascular disorder in 28%. Data on growth hormone therapy were available for 40 patients (15%) and data concerning menarche in 157 patients (61%).ConclusionIn 258 women with TS, retrospective analysis of healthcare data indicated that medical management was focused on endocrine manifestations. Further significant clinical features including cardiovascular disease, renal malformation, liver involvement, autoimmune diseases, hearing loss, and osteoporosis were only marginally if at all considered. Based on this evaluation and in accordance with recent guidelines, we compiled a documentation form facilitating the transition from pediatric to adult care and further medical management of TS patients. The foundation of Turner Centers in March 2019 will improve the treatment of TS women in Germany.
Highlights
With a prevalence of 1 in 2500 live female births and around 16,000 affected women in Germany, Turner syndrome (TS) is one of the most common chromosome aberrations
Several studies have reported that the medical care of TS patients is unsatisfactory after transitioning from pediatric to adult care (2, 8, 19, 20, 21, 22, 23, 24)
HGHT was started at 9.8 ± 3.4 years of age (n = 97; n = 41 age at diagnosis unknown); on average 2 years after diagnosis
Summary
With a prevalence of 1 in 2500 live female births and around 16,000 affected women in Germany, Turner syndrome (TS) is one of the most common chromosome aberrations. It is caused by the complete or partial absence of the second sex chromosome (1). Increased liver enzyme values, thyroid abnormalities, sensorineural hearing loss, and inflammatory bowel disease are relatively common in TS (3, 11, 12, 13, 14, 15). These women display a tendency to suffer from low bone mineral density (16) and to develop autoimmune diseases (17). Multidisciplinary centers capable of managing the care after childhood are important to improve and maintain the quality of medical care in women with Turner syndrome and were established in several countries during the last decade (26, 27, 28, 29, 30, 31, 32)
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