Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany
Open accessAbstract
OBJECTIVE: Turner 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. DESIGN: Retrospective multicenter observational study. METHODS: Data were collected from medical records of 258 women with TS treated between 2001 and 2017 in five non-university endocrinologic centers in Germany. RESULTS: Mean 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%). CONCLUSION: In 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.
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Imaging remains underutilized and not systematically applied.
“Non-invasive imaging is an essential part of cardiovascular screening and surveillance across the life span of individuals with TS,233,388,396,418-423 but imaging remains underutilized and not systematically applied.420,424”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [424]
General guidelines recommend that transition begin between 12 and 14 years of age.
“General guidelines recommend that transition begin between 12 and 14 years of age, yet developmental age is likely more relevant than chronological age in individuals with TS given the increased neurocognitive and psychosocial differences.424,532,533”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [424]
Quality of care and detection of comorbidities improves with adequate adult care.
“Additionally, there is a paucity of specialized adult providers with experience caring for individuals with TS, and quality of care and detection of comorbidities improves with adequate adult care.334,424,555,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [424]
Gaps in care among adult women with TS are in large part attributed to the lack of specialized adult TS providers/centers.
“Gaps in care among adult women with TS are in large part attributed to the lack of specialized adult TS providers/centers.424”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [424]
There is a paucity of specialized adult providers with experience caring for individuals with TS.
“Additionally, there is a paucity of specialized adult providers with experience caring for individuals with TS, and quality of care and detection of comorbidities improves with adequate adult care.334,424,555,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [424]
Developmental age is likely more relevant than chronological age in individuals with TS given the increased neurocognitive and psychosocial differences.
“General guidelines recommend that transition begin between 12 and 14 years of age, yet developmental age is likely more relevant than chronological age in individuals with TS given the increased neurocognitive and psychosocial differences.424,532,533”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [424]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Kahlert, E., Blaschke, M., Brockmann, K., Freiberg, C., Janssen, O. E., Stahnke, N., Strik, D., Merkel, M., Mann, A., Liesenkötter, K.-P., & Siggelkow, H.
- Affiliations
- Universitätsmedizin Göttingen (DE)
- Endokrinologikum (DE)
- 5Endokrinologikum Berlin, Berlin, Germany
- 6Endokrinologikum Hannover, Hannover, Germany
- 7Endokrinologikum Frankfurt, Frankfurt/Main, Germany
- Corresponding author
- Siggelkow, Heide
- Venue
- Endocrine Connections
- Publisher
- Bioscientifica
- Published
- 2019-11
- Volume
- 8
- Issue
- 11
- Pages
- 1483-1492
- ISSN
- 2049-3614 (ISSN-L)
- PMC
- PMC6865863
- OpenAlex
- W2980685265
- Cited by
- 14
- References
- 54
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 4 · 2022: 2 · 2021: 1 · 2019: 1 · 2018: 1
- FWCI
- 0.60
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Endocrine Connections (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (submittedVersion, cc-by)
- GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (submittedVersion, other-oa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Health Professions › Speech and Hearing › Adolescent and Pediatric Healthcare
- Keywords
- Turner syndrome, adult care, quality of care, cardiovascular disease, autoimmune thyroiditis, growth hormone therapy, menarche, endocrine manifestations, transition from pediatric to adult care, documentation forms, Germany
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