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  • Abstract: menopause x
  • Abstract: testes x
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Mette H Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

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In this commentary, we discuss the state of affairs concerning the clinical care of females with Turner syndrome (TS) in Germany. TS is a rare disease and new international guidelines describe an appropriate setup for optimal clinical care. Several countries have implemented a program with centralized adult Turner syndrome clinics, which are now found in France, Denmark, the Netherlands, Sweden, parts of England and possibly other countries, but hitherto not in Germany. Such an approach should ensure the availability of high quality multi-disciplinary care for all women with TS to be treated and to detect all the conditions that have been associated with TS, which typically appear at odd times during the lifetime of a female with TS. Care should be offered at no added cost for the patient, and treatment with relevant drugs should be available at reasonable cost for the individual patient. Currently, it is quite problematic that many female sex hormone preparations are not available at low cost in a number of countries. Additional problems include supply chain issue which lead to patients not being able to buy their usual drug for a certain period of time. We think it is timely that countries improve the care for individuals with rare conditions, such as TS.

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Katica Bajuk Studen Nuclear Medicine Department, University Medical Centre Ljubljana, Ljubljana, Slovenia

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Marija Pfeifer Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

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Polycystic ovary syndrome (PCOS) is a common disorder in women of reproductive age. Besides hyperandrogenism, oligomenorrhea and fertility issues, it is associated with a high prevalence of metabolic disorders and cardiovascular risk factors. Several genetic polymorphisms have been identified for possible associations with cardiometabolic derangements in PCOS. Different PCOS phenotypes differ significantly in their cardiometabolic risk, which worsens with severity of androgen excess. Due to methodological difficulties, longer time-scale data about cardiovascular morbidity and mortality in PCOS and about possible beneficial effects of different treatment interventions is missing leaving many issues regarding cardiovascular risk unresolved.

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Veronica Kieffer
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Kate Davies University Hospitals of Leicester NHS Trust, Great Ormond Street Hospital for Children NHS Trust, Central Manchester University Hospitals NHS Foundation Trust, NHS Grampian, Portsmouth Hospitals NHS Trust, Salford Royal Hospitals Foundation Trust, Heart of England NHS Foundation Trust, The London Clinic, Department of Diabetes and Endocrinology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK

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Christine Gibson University Hospitals of Leicester NHS Trust, Great Ormond Street Hospital for Children NHS Trust, Central Manchester University Hospitals NHS Foundation Trust, NHS Grampian, Portsmouth Hospitals NHS Trust, Salford Royal Hospitals Foundation Trust, Heart of England NHS Foundation Trust, The London Clinic, Department of Diabetes and Endocrinology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK

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Morag Middleton University Hospitals of Leicester NHS Trust, Great Ormond Street Hospital for Children NHS Trust, Central Manchester University Hospitals NHS Foundation Trust, NHS Grampian, Portsmouth Hospitals NHS Trust, Salford Royal Hospitals Foundation Trust, Heart of England NHS Foundation Trust, The London Clinic, Department of Diabetes and Endocrinology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK

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Jean Munday University Hospitals of Leicester NHS Trust, Great Ormond Street Hospital for Children NHS Trust, Central Manchester University Hospitals NHS Foundation Trust, NHS Grampian, Portsmouth Hospitals NHS Trust, Salford Royal Hospitals Foundation Trust, Heart of England NHS Foundation Trust, The London Clinic, Department of Diabetes and Endocrinology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK

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Shashana Shalet University Hospitals of Leicester NHS Trust, Great Ormond Street Hospital for Children NHS Trust, Central Manchester University Hospitals NHS Foundation Trust, NHS Grampian, Portsmouth Hospitals NHS Trust, Salford Royal Hospitals Foundation Trust, Heart of England NHS Foundation Trust, The London Clinic, Department of Diabetes and Endocrinology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK

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Lisa Shepherd University Hospitals of Leicester NHS Trust, Great Ormond Street Hospital for Children NHS Trust, Central Manchester University Hospitals NHS Foundation Trust, NHS Grampian, Portsmouth Hospitals NHS Trust, Salford Royal Hospitals Foundation Trust, Heart of England NHS Foundation Trust, The London Clinic, Department of Diabetes and Endocrinology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK

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Phillip Yeoh University Hospitals of Leicester NHS Trust, Great Ormond Street Hospital for Children NHS Trust, Central Manchester University Hospitals NHS Foundation Trust, NHS Grampian, Portsmouth Hospitals NHS Trust, Salford Royal Hospitals Foundation Trust, Heart of England NHS Foundation Trust, The London Clinic, Department of Diabetes and Endocrinology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK

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This competency framework was developed by a working group of endocrine specialist nurses with the support of the Society for Endocrinology to enhance the clinical care that adults with an endocrine disorder receive. Nurses should be able to demonstrate that they are functioning at an optimal level in order for patients to receive appropriate care. By formulating a competency framework from which an adult endocrine nurse specialist can work, it is envisaged that their development as professional practitioners can be enhanced. This is the second edition of the Competency Framework for Adult Endocrine Nursing. It introduces four new competencies on benign adrenal tumours, hypo- and hyperparathyroidism, osteoporosis and polycystic ovary syndrome. The authors and the Society for Endocrinology welcome constructive feedback on the document, both nationally and internationally, in anticipation that further developments and ideas can be incorporated into future versions.

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Yao Chen Hangzhou Fuyang Women and Children Hospital, Hangzhou, China

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Shu-ying Fang Hangzhou Fuyang Women and Children Hospital, Hangzhou, China

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Polycystic ovary syndrome (PCOS) is a heterogenous endocrine disorder with typical symptoms of oligomenorrhoea, hyperandrogenism, hirsutism, obesity, insulin resistance and increased risk of type 2 diabetes mellitus. Extensive evidence indicates that PCOS is a genetic disease and numerous biochemical pathways have been linked with its pathogenesis. A number of genes from these pathways have been investigated, which include those involved with steroid hormone biosynthesis and metabolism, action of gonadotropin and gonadal hormones, folliculogenesis, obesity and energy regulation, insulin secretion and action and many others. In this review, we summarize the historical and recent findings in genetic polymorphisms of PCOS from the relevant publications and outline some genetic polymorphisms that are potentially associated with the risk of PCOS. This information could uncover candidate genes associating with PCOS, which will be valuable for the development of novel diagnostic and treatment platforms for PCOS patients.

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Sebastião Freitas de Medeiros Department of Gynecology and Obstetrics, Medical School, Federal University of Mato Grosso, Cuiabá, Mato Grosso, Brazil
Tropical Institute of Reproductive Medicine and Menopause, Cuiabá, Mato Grosso, Brazil

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Cinthia Marenza Ormond Tropical Institute of Reproductive Medicine and Menopause, Cuiabá, Mato Grosso, Brazil

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Matheus Antônio Souto de Medeiros Tropical Institute of Reproductive Medicine and Menopause, Cuiabá, Mato Grosso, Brazil

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Nayara de Souza Santos Department of Gynecology and Obstetrics, Medical School, Federal University of Mato Grosso, Cuiabá, Mato Grosso, Brazil
Tropical Institute of Reproductive Medicine and Menopause, Cuiabá, Mato Grosso, Brazil

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Camila Regis Banhara Department of Gynecology and Obstetrics, Medical School, Federal University of Mato Grosso, Cuiabá, Mato Grosso, Brazil
Tropical Institute of Reproductive Medicine and Menopause, Cuiabá, Mato Grosso, Brazil

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Márcia Marly Winck Yamamoto Tropical Institute of Reproductive Medicine and Menopause, Cuiabá, Mato Grosso, Brazil

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Objective

To examine the anthropometric, and metabolic connections of 17-hydroxypregnenolone in the normo- and hyperandrogenemic polycystic ovary syndrome phenotypes.

Materials and methods

This cohort study was conducted at the Julio Muller University Hospital, Cuiabá, Brazil, between January 2014 and July 2016, and 91 normal cycling healthy women, 46 normoandrogenemic and 147 hyperandrogenemic, patients with polycystic ovary syndrome (PCOS) were enrolled according to the Rotterdam criteria. Several anthropometric, biochemical and hormonal parameters were properly verified and correlated with 17-hydroxypregnenolone (17-OHPE) concentrations.

Results

17-OHPE was higher in hyperandrogenemic PCOS than in normoandrogenemic PCOS and in control groups (P = 0.032 and P < 0.001, respectively). In healthy controls, 17-OHPE was positively associated with glucose, free estrogen index, DHEAS and negatively associated with compounds S. In normoandrogenemic PCOS patients, 17-OHPE presented positive correlations with VAI, LAP, cortisol, insulin and HOMA-IR. In the hyperandrogenemic group, 17-OHPE presented significant negative correlations with most anthropometric parameters, HOMA-IR, HOMA %B, estradiol, free estrogen index (FEI), C-peptide, and TG levels and positive correlations with HOMA-S and high-density lipoprotein cholesterol (HDL-C), sex-hormone binding globulin (SHBG), androstenedione (A4) and dehydroepiandrosterone (DHEA). Regarding hyperandrogenemic PCOS, and using a stepwise multiple regression, only HOMA-S and WHR were retained in the model (R 2 = 0.294, P < 0.001).

Conclusion

17-OHPE exhibited different relationships with anthropometric, and biochemical parameters in PCOS patients, depending on the androgen levels. In PCOS subjects with high androgen concentrations, 17-OHPE was negatively associated with most anthropometric parameters, particularly with those used as markers of adipose tissue dysfunction and frequently employed as predictors of cardiovascular disease risk; otherwise, 17-OHPE was positively associated with HDL-C and HOMA-S in this patients. Future studies are required to evaluate the clinical implications of these novel findings.

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Anita Hokken-Koelega Erasmus University Medical Centre, Rotterdam, The Netherlands

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Aart-Jan van der Lely Erasmus University Medical Centre, Rotterdam, The Netherlands

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Berthold Hauffa University Children’s Hospital, Essen, Germany

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Gabriele Häusler Medical University and General Hospital of Vienna, Vienna, Austria

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Gudmundur Johannsson Sahlgrenska University Hospital, Göteborg, Sweden

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Mohamad Maghnie Istituto Giannina Gaslini, University of Genova, Genova, Italy

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Jesús Argente Hospital Infantil Universitario Niño Jesús, Madrid, Spain

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Jean DeSchepper University Hospital Brussels, Brussels, Belgium

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Helena Gleeson Queen Elizabeth Hospital, Birmingham, UK

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John W Gregory Cardiff University School of Medicine, Cardiff, UK

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Charlotte Höybye Department of Molecular Medicine and Surgery, Karolinska Institute and Department of Endocrinology, Metabolism and Diabetology, Karolinska University Hospital, Stockholm, Sweden

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Fahrettin Keleştimur Department of Endocrinology, School of Medicine, Erciyes University, Kayseri, Turkey

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Anton Luger Sahlgrenska University Hospital, Göteborg, Sweden

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Hermann L Müller Department of Pediatrics, Klinikum Oldenburg, Medical Campus University Oldenburg, Oldenburg, Germany

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Sebastian Neggers University Children’s Hospital, Essen, Germany

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Vera Popovic-Brkic Belgrade University School of Medicine, Belgrade, Serbia

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Eleonora Porcu University of Bologna, Bologna, Italy

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Lars Sävendahl Department of Women’s and Children’s Health, Karolinska Institutet, and Pediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden

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Stephen Shalet The Christie Hospital, Manchester, UK

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Bessie Spiliotis University of Patras School of Medicine, Patras, Greece

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Maithé Tauber Hôpital des Enfants, Toulouse, France

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Objective

Seamless transition of endocrine patients from the paediatric to adult setting is still suboptimal, especially in patients with complex disorders, i.e., small for gestational age, Turner or Prader–Willi syndromes; Childhood Cancer Survivors, and those with childhood-onset growth hormone deficiency.

Methods

An expert panel meeting comprised of European paediatric and adult endocrinologists was convened to explore the current gaps in managing the healthcare of patients with endocrine diseases during transition from paediatric to adult care settings.

Results

While a consensus was reached that a team approach is best, discussions revealed that a ‘one size fits all’ model for transition is largely unsuccessful in these patients. They need more tailored care during adolescence to prevent complications like failure to achieve target adult height, reduced bone mineral density, morbid obesity, metabolic perturbations (obesity and body composition), inappropriate/inadequate puberty, compromised fertility, diminished quality of life and failure to adapt to the demands of adult life. Sometimes it is difficult for young people to detach emotionally from their paediatric endocrinologist and/or the abrupt change from an environment of parental responsibility to one of autonomy. Discussions about impending transition and healthcare autonomy should begin in early adolescence and continue throughout young adulthood to ensure seamless continuum of care and optimal treatment outcomes.

Conclusions

Even amongst a group of healthcare professionals with a great interest in improving transition services for patients with endocrine diseases, there is still much work to be done to improve the quality of healthcare for transition patients.

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Caroline Culen University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Diana-Alexandra Ertl University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Katharina Schubert University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Lisa Bartha-Doering University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Gabriele Haeusler University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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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.

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María Dolores Rodríguez Arnao Pediatric Endocrinology Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain

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Amparo Rodríguez Sánchez Pediatric Endocrinology Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain

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Ignacio Díez López Hospital Universitario Araba, Araba/Alava, Spain

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Joaquín Ramírez Fernández Hospital Universitario Príncipe de Asturias, Oviedo, Spain

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Jose Antonio Bermúdez de la Vega Centro Nuevas Tecnologias, Sevilla, Spain

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Diego Yeste Fernández Hospital Vall d’Hebrón, Barcelona, Spain

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María Chueca Guindulain Complejo Hospitalario de Navarra, Pamplona, Spain

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Raquel Corripio Collado Corporació Sanitària Parc Taulí, Sabadell, Barcelona, Spain

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Jacobo Pérez Sánchez Corporació Sanitària Parc Taulí, Sabadell, Barcelona, Spain

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Ana Fernández González Merck S.L.U., Madrid, Spain

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ECOS Spain Study Collaborative Investigator Group
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Background

Non-adherence to r-hGH treatments occurs in a variable percentage of subjects. One problem found when evaluating adherence is the great variability in methods of detection and definitions utilized in studies. This study assessed the level of adherence in subjects receiving r-hGH with the easypod™ electronic device.

Methods

National, multicenter, prospective and observational study involving 238 subjects (144 with GH deficiency (GHD), and 86 with small for gestational age (SGA), 8 with Turner Syndrome), who received r-hGH with easypod™ for at least 3 months before inclusion. The follow-up period was 4 years.

Results

Overall adherence was 94.5%; 97.5% after 6 months, 95.3% after 1 year, 93.7% after 2, 94.4% after 3 and 95.5% after 4 years of treatment. No differences in adherence were observed between prepubertal and pubertal groups and GHD and SGA groups. Change in height after 1 and 2 years, change in height SDS after 1 and 2 years, HV after 1 year, HV SDS after at 1 and 4 years, change in BMI after 1 year and change in BMI SDS at 1 and 2 years showed significant correlation with adherence. No significant differences in adherence according to IGF-I levels were found in follow-up visits or between groups.

Conclusions

The easypod™ electronic device, apart from being a precise and objective measure of adherence to r-hGH treatment, allows high compliance rates to be achieved over long periods of time. Adherence significantly impacts growth outcomes associated with r-hGH treatment.

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Diana-Alexandra Ertl Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Andreas Gleiss Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Vienna, Austria

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Katharina Schubert Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Caroline Culen Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Peer Hauck Pediatric Heart Center Vienna, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Johannes Ott Clinic Division for Gynecologic Endocrinology and Reproductive Medicine, Medical University of Vienna, Vienna, Austria

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Alois Gessl Division of Endocrinology, University Clinic of Internal Medicine III, Medical University of Vienna, Vienna, Austria

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Gabriele Haeusler Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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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.

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Małgorzata Więcek Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland

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Jakub Gawlik Student Scientific Society at the Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland

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Zuzanna Nowak Student Scientific Society at the Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland

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Aneta Gawlik Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland

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Loss of fertility is one of the most important concerns facing Turner syndrome (TS) patients as they transition into adult health care. Due to the limited and rapidly decreasing ovarian reserve, many TS patients require fertility preservation (FP) techniques to preserve their reproductive potential until they are ready to pursue procreation. One has to also remember about the additional risks connected with pregnancy in TS patients. In order to determine the optimal time for introducing FP techniques and decrease the chance of an unnecessary intervention, markers and procedures assessing ovarian reserve have been developed. The exposure to potential cardiovascular complications should be determined before FP to avoid unnecessary procedures in patients with potential contraindications to pregnancy. The aim of the present review is to answer the following three questions important for successful preservation of fertility and safe pregnancy in TS: which markers of ovarian reserve should be used as selection criteria for FP? Which methods of FP are the safest and most effective? Are there any cardiovascular contraindications to FP? For each of those questions, separate literature searches have been conducted. A total of 86 articles have been included in this review: 34 for the first question, 35 for the second, and 17 for the third. Ovarian reserve markers and cardiovascular contraindications to pregnancy should be established before FP; hoverer, there are no unambiguous indicators as to which patients should be disqualified from the FP and more evidence is needed in this subject.

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