scholarly journals Care of girls and women with Turner syndrome: beyond growth and hormones

2017 ◽  
Vol 6 (4) ◽  
pp. R39-R51 ◽  
Author(s):  
Caroline Culen ◽  
Diana-Alexandra Ertl ◽  
Katharina Schubert ◽  
Lisa Bartha-Doering ◽  
Gabriele Haeusler
Keyword(s):  
Turner Syndrome ◽  
Psychosocial Development ◽  
Sex Chromosome ◽  
Psychosocial Care ◽  
Adult Care ◽  
Increased Risk ◽  
Optimal Screening ◽  
Age Appropriate ◽  
Physical Features

Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. Guidelines on the optimal screening procedures and medical treatment are easy to find. However, recommendations for the treatment of the incriminating psychosocial aspects in TS are scarce. In this work, we first reviewed the literature on the cognitive and psychosocial development of girls with TS compared with normal development, from disclosure to young adulthood, and then introduce a psychosocial approach to counseling and treating patients with TS, including recommendations for age-appropriate psychological diagnostics. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS.

scholarly journals The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

2021 ◽  
Author(s):  
Francisco Álvarez-Nava
Keyword(s):  
Cell Cycle ◽  
Turner Syndrome ◽  
Low Birthweight ◽  
Sex Chromosome ◽  
Heart Diseases ◽  
Cellular Growth ◽  
Proliferating Cells ◽  
Cycle Frequency ◽  
Increased Risk ◽  
New Findings

Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birthweight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life.

scholarly journals Health status, quality of life and medical care in adult women with Turner syndrome

2018 ◽  
Vol 7 (4) ◽  
pp. 534-543 ◽  
Author(s):  
Diana-Alexandra Ertl ◽  
Andreas Gleiss ◽  
Katharina Schubert ◽  
Caroline Culen ◽  
Peer Hauck ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Medical Care ◽  
Turner Syndrome ◽  
Reference Population ◽  
Care Quality ◽  
Study Cohort ◽  
Adult Women ◽  
Adult Care

Background Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care. Aim of this study To assess the status of medical follow-up and quality of life (QoL) in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations. Methods 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory). Results 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. Conclusion Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

scholarly journals Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

2017 ◽  
Vol 88 (3-4) ◽  
pp. 291-297 ◽  
Author(s):  
Tamar G. Baer ◽  
Christopher E. Freeman ◽  
Claudia Cujar ◽  
Mahesh Mansukhani ◽  
Bahadur  Singh ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Heterogeneous Distribution ◽  
Gonadal Tissue ◽  
Malignancy Risk ◽  
Monosomy X ◽  
Increased Risk ◽  
A Cell ◽  
Chromosome Material

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du­plicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue.

scholarly journals Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany

2019 ◽  
Vol 8 (11) ◽  
pp. 1483-1492
Author(s):  
Elin Kahlert ◽  
Martina Blaschke ◽  
Knut Brockmann ◽  
Clemens Freiberg ◽  
Onno E Janssen ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Medical Management ◽  
Sex Chromosome ◽  
Clinical Manifestations ◽  
Cardiovascular Disorder ◽  
Adult Care ◽  
Multicenter Observational Study ◽  
Healthcare Data ◽  
Second Sex ◽  
Wide Range

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.

Turner syndrome through the lens of a gynaecologist

2020 ◽  
pp. 205336912095859
Author(s):  
Shehnaaz Jivraj ◽  
Susan Stillwell
Keyword(s):  
Turner Syndrome ◽  
Sex Chromosome ◽  
Psychosocial Care ◽  
Rare Condition ◽  
Multidisciplinary Care ◽  
Risk Pregnancy ◽  
Paediatric Endocrinology ◽  
Specialist Services ◽  
Adult Service ◽  
Made In

Turner syndrome is a rare condition affecting 1 in 2500 female births and yet is the most common sex chromosome abnormality in women. Described as a cradle-to-grave condition, it requires life-long multidisciplinary management. Accelerated atresia of the primordial follicular pool leads to premature ovarian insufficiency, which is an almost inevitable feature of Turner syndrome, especially in 45XO karyotype. Many patients will have had their diagnosis made in childhood and require paediatric endocrinology management especially for induction of puberty. At the age of 18, patients may then be transitioned to an adult service. Continuation of multidisciplinary care for these women requires input from specialist services in menopause care, reproductive medicine and high-risk pregnancy, cardiology, endocrinology, bone health and psychosocial care. A gynaecologist may take on the mantle of lead clinician especially during the perceived reproductive years of a Turner syndrome patient’s life, hinging together management input from other disciplines. This review attempts to summarise an overview of the involvement of such a multidisciplinary team in the management of a single but complex condition, through the lens of a gynaecologist.

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

2014 ◽  
Vol 26 (8) ◽  
pp. 1176 ◽  
Author(s):  
Adriana Valéria Sales Bispo ◽  
Pollyanna Burégio-Frota ◽  
Luana Oliveira dos Santos ◽  
Gabriela Ferraz Leal ◽  
Andrea Rezende Duarte ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
In Situ Hybridisation ◽  
Normal Female ◽  
Fluorescence In Situ Hybridisation ◽  
Partial Monosomy ◽  
Chromosome Mosaicism ◽  
Increased Risk

Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5–12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

Assessment of the Therapeutic Effect of Physiotherapy on Minimizing Imbalances of Geriatric Patients

2020 ◽  
Vol 62 (2) ◽  
pp. 86-91
Author(s):  
Justyna Pawlak ◽  
Małgorzata Dudkiewicz ◽  
Łukasz Kikowski
Keyword(s):  
Quality Of Life ◽  
Therapeutic Effect ◽  
Body Mass ◽  
Geriatric Patients ◽  
The Elderly ◽  
Risk Of Falling ◽  
Increased Risk ◽  
Climbing Stairs ◽  
Tinetti Test

Introduction: The progressing aging process and comorbidities worsen the efficiency of the balance system in the elderly, which leads to a weakening of stability and, as a consequence, to falls and injuries. The first ones lead to: worsening of functioning, reduced mobility, an increased risk of disease and mortality, therefore systematic physical activity and shaping the balance using physiotherapy, which can prevent dangerous falls is very important. Aim: Assessment of the therapeutic effect of physiotherapy on minimizing imbalances in geriatric patients. M aterial and Methods: The study group consisted of 46 people, including 32 women (69.6%) and 14 men (30.4%); average age of respondents – 72.5 years. They were patients of the Department of Rehabilitation of Poddębice Health Center, Ltd. The researchers used a self-made questionnaire, body mass to height index (BMI) and the Tinetti Test. Results: Patients with an elevated BMI (89.1%), as well as those taking more than 4 medication (78.3%), have had more falls over the past year (respectively 91.4% and 81.4%). After the use of comprehensive therapy, none of the patients achieved a worse result than before the physiotherapy while 91.3% of the respondents had an increase in the number of points scored in the Tinetti Test. The percentage of patients at high risk of falling reduced from 67.4% to 37%. There was also a decrease in the fear of walking (in 58.7%), falling (in 57.7%) and climbing stairs (in 47.9%). According to 78.3% of respondents, physiotherapy positively affected their independence and quality of life. Conclusions: The use of comprehensive physiotherapy reduces the fear of walking, climbing stairs and falling, which can be a good predictor of prevention. Both polypragmasia and an elevated body mass index (BMI) increase the risk of falling. Comprehensive physiotherapy of geriatric patients helps to improve balance and gait stereotype. Physiotherapy for the elderly helps improve the quality of life, independence, minimize imbalances, and thus reduce the risk of falls. Balance exercises play an important role in preventing falls.

Lung Function and Quality of Life in Workers with Chemical and Dust Exposure

2018 ◽  
Vol 69 (2) ◽  
pp. 346-349 ◽  
Author(s):  
Marina Ruxandra Otelea ◽  
Oana Cristina Arghir ◽  
Corina Zugravu ◽  
Eugenia Naghi ◽  
Sabina Antoniu ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Occupational Exposure ◽  
Lung Function ◽  
Lung Diseases ◽  
Dust Exposure ◽  
Chronic Lung Diseases ◽  
Respiratory Exposure ◽  
Increased Risk ◽  
Occupational Settings

Regarding the widely distribution of respiratory exposure hazards in occupational settings, workers have an increased risk for chronic lung diseases. For assessing the quality of life and lung function in workers exposed to chemicals and dust, St George�s Respiratory Questionnaire (SGRQ) and spirometry were performed among 40 patients, admitted in Occupational Clinic Department of Colentina Hospital, Bucharest, Romania, during February, 2017. SGRQ showed different predictors for patients according to their occupational exposure and total symptoms score correlated better with decreased spirometric parameters in defining lung function deterioration. Quality of life is earlier affected than lung function deterioration and emphasises the need of more sensitive methods for an earlier identification and better evaluation of respiratory hazards in different workplaces.

Biopsychosocial Patterning of Multimorbidity and Its Consequences

2018 ◽  
pp. 220-236
Author(s):  
Elliot Friedman ◽  
Beth LeBreton ◽  
Lindsay Fuzzell ◽  
Elizabeth Wehrpsann
Keyword(s):  
Quality Of Life ◽  
Older Adults ◽  
Functional Outcomes ◽  
The United States ◽  
Chronic Medical Conditions ◽  
Quality Of Life Research ◽  
Increased Risk ◽  
Over Time

By many estimates the majority of adults over age 65 have two or more chronic medical conditions (multimorbidity) and are consequently at increased risk of adverse functional outcomes. Nonetheless, many older adults with multimorbidity are able to maintain high levels of function and retain good quality of life. Research presented here is designed to understand the influences that help ensure better functional outcomes in these older adults. This chapter presents findings that draw on data from the Midlife in the United States study. The independent and interactive contributions of diverse factors to multimorbidity and changes in multimorbidity over time are reviewed. The degree that multimorbidity increases risk of cognitive impairment and disability is examined. The role of inflammation as a mediator is considered. Multimorbidity is increasingly the norm for older adults, so better understanding of factors contributing to variability in multimorbidity-related outcomes can lead to improved quality of life.

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