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Turner syndrome (TS) is a rare chromosomal disorder characterized by gonadal dysfunction, short stature and heart defects, among others. Women with TS often suffer from severe fatigue, for which they are typically referred to endocrinologists. The diagnostic work-up is generally time-consuming and invasive, but it rarely solves the proble...
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... total, 170 women were included in the study. Characteristics of all women are described in Table 1. Median age was 32.6 years (IQR, 23.9-41.4 ...Context 2
... with problematic fatigue had less often received childhood GH treatment than women without problematic fatigue (64% vs 81%; P = .02; Table 1). However, when correcting for karyotype and age, the association between childhood GH treatment and total CIS-20 score was not significant (Table 3). ...Context 3
... 2 ; P < .001) and that BMI itself was positively associated with fatigue (Table 1). Therefore, we think that the "abnormal liver enzyme levels" alone are not associated with fatigue, but that this association might be confounded by BMI. ...Context 4
... hypothyroidism is actually found, the regular guidelines for treatment of subclinical hypothyroidism should be followed (as in women without TS). The prevalence of other TS-associated health problems in our cohort in comparison with previous literature is given in the supplementary data, Supplementary Table S3 (19). Previous research showed that women with a mosaic karyotype generally have a less severe phenotype (5). ...Citations
... Organisms are required to respond and adapt adequately to ubiquitous stress in an everchanging environment, such as viral infections, trauma, and adverse life events. In the first place, the onset of fatigue and its co-factors is regulated by the in-vivo stress response system [101,102]. When subjected to internal and external stress, the biological stress response system immediately makes corresponding alterations, including the HPA axis and the ANS system, as well as the neuroimmune system [14,[103][104][105]. ...
Fatigue, an increasingly acknowledged symptom in various chronic diseases, has garnered heightened attention, during the medical era of bio-psycho-social model. Its persistence not only significantly compromises an individual’s quality of life but also correlates with chronic organ damage. Surprisingly, the intricate relationship between fatigue and female reproductive health, specifically infertility, remains largely unexplored. Our exploration into the existing body of evidence establishes a compelling link between fatigue with uterine and ovarian diseases, as well as conditions associated with infertility, such as rheumatism. This observation suggests a potentially pivotal role of fatigue in influencing overall female fertility. Furthermore, we propose a hypothetical mechanism elucidating the impact of fatigue on infertility from multiple perspectives, postulating that neuroendocrine, neurotransmitter, inflammatory immune, and mitochondrial dysfunction resulting from fatigue and its co-factors may further contribute to endocrine disorders, menstrual irregularities, and sexual dysfunction, ultimately leading to infertility. In addition to providing this comprehensive theoretical framework, we summarize anti-fatigue strategies and accentuate current knowledge gaps. By doing so, our aim is to offer novel insights, stimulate further research, and advance our understanding of the crucial interplay between fatigue and female reproductive health.
Turner syndrome affects 50 per 100,000 females, affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and US culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: 1) diagnosis and genetics, 2) growth, 3) puberty and estrogen treatment, 4) cardiovascular health, 5) transition, 6) fertility assessment, monitoring, and counselling, 7) health surveillance for comorbidities throughout the lifespan, and 8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.
