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      Evaluation of Turner Syndrome Knowledge among Physicians and Parents

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          Abstract

          Objective:

          Turner syndrome (TS) is one of the most common chromosomal abnormalities and an important cause of short stature and infertility due to ovarian failure in females. The aim was to evaluate the knowledge of TS among physicians and parents of children with TS and to enhance awareness about this subject.

          Methods:

          One hundred and forty physicians were included in the study. The study population comprised 37 pediatricians (26.4%), 15 gynecologists (10.7%), 88 family physicians (62.9%) and 30 parents who had daughters with a diagnosis of TS. Two separate questionnaires were administered to evaluate TS knowledge of physicians and parents.

          Results:

          According to the self-reports of physicians, 49% had insufficient knowledge of TS, while 15.7% indicated that they had no knowledge of TS. The mean percentage of correct answers was 50.71±16.17% for all physicians. When the entire group of physicians was considered, 67.1% of them did not know the approximate incidence of TS, while 14.3% of them incorrectly indicated that TS was a condition that was seen in boys. The mean percentage of correct answers among parents was 68±15%, and there was no difference between the mothers’ and fathers’ correct answer rates (p=0.063). The majority of parents was not aware of TS-associated diseases and increased malignancy risk in TS.

          Conclusion:

          Physician knowledge of TS was poor and that there is a need for continued education about TS at the medical faculty and post-graduate levels.

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          Most cited references13

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          Turner's syndrome.

          Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by Otto Ullrich and Henry Turner, such as short stature, gonadal dysgenesis, typical, visible dysmorphic stigmata, and abnormalities in organs, which present in individuals with a female phenotype. Today, Turner's syndrome or Ullrich-Turner's syndrome may be defined as the combination of characteristic physical features and complete or part absence of one of the X chromosomes, frequently accompanied by cell-line mosaicism. The increasing interest in Turner's syndrome over the past two decades has been motivated both by the quest for a model by which the multi-faceted features of this disorder can be understood, and the endeavour to provide life-long support to the patient. New developments in research allow patients with Turner's syndrome to have multidisciplinary care.
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            Turner's syndrome in adulthood.

            Turner's syndrome is the most common chromosomal abnormality in females, affecting 1:2,500 live female births. It is a result of absence of an X chromosome or the presence of a structurally abnormal X chromosome. Its most consistent clinical features are short stature and ovarian failure. However, it is becoming increasingly evident that adults with Turner's syndrome are also susceptible to a range of disorders, including osteoporosis, hypothyroidism, and renal and gastrointestinal disease. Women with Turner's syndrome have a reduced life expectancy, and recent evidence suggests that this is due to an increased risk of aortic dissection and ischemic heart disease. Up until recently, women with Turner's syndrome did not have access to focused health care, and thus quality of life was reduced in a significant number of women. All adults with Turner's syndrome should therefore be followed up by a multidisciplinary team to improve life expectancy and reduce morbidity.
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              Turner Syndrome

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                Author and article information

                Journal
                J Clin Res Pediatr Endocrinol
                J Clin Res Pediatr Endocrinol
                JCRPE
                Journal of Clinical Research in Pediatric Endocrinology
                Galenos Publishing
                1308-5727
                1308-5735
                March 2020
                19 March 2020
                : 12
                : 1
                : 95-103
                Affiliations
                [1 ]University of Health Sciences Turkey, Tepecik Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey
                [2 ]University of Health Sciences Turkey, Tepecik Training and Research Hospital, Clinic of Pediatrics, İzmir, Turkey
                [3 ]Katip Çelebi University, Atatürk Traning and Research Hospital, Clinic of Biochemistry, İzmir, Turkey
                [4 ]Katip Çelebi University Faculty of Health Sciences, Department of Public Health Nursing, İzmir, Turkey
                [5 ]Katip Çelebi University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
                Author notes
                * Address for Correspondence: University of Health Sciences Turkey, Tepecik Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey Phone: +90 232 469 69 69 E-mail: bernafilibeli@ 123456gmail.com
                Author information
                https://orcid.org/0000-0002-2696-0195
                https://orcid.org/0000-0003-0557-6124
                https://orcid.org/0000-0002-8995-5561
                https://orcid.org/0000-0002-9846-8992
                https://orcid.org/0000-0002-0488-6377
                https://orcid.org/0000-0002-7506-061X
                Article
                30132
                10.4274/jcrpe.galenos.2019.2019.0041
                7127883
                31486330
                afa60672-bef9-40df-88a2-c32c4cfa860b
                ©Copyright 2020 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 8 April 2019
                : 4 September 2019
                Categories
                Original Article

                Pediatrics
                turner syndrome,knowledge levels,questionnaire,education
                Pediatrics
                turner syndrome, knowledge levels, questionnaire, education

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