Evaluation of Turner Syndrome Knowledge among Physicians and Parents (original) (raw)
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Clinical Profile of Turner Syndrome: A Tertiary Center Experience
Dubai Diabetes and Endocrinology Journal
Background: Turner syndrome (TS) is the commonest chromosomal abnormality in females with an incidence of 25–50 per 100,000 females. Girls with TS universally have short stature (95%), along with gonadal failure (>90%) and infertility (99%); however, the ethnic differences are not well elaborated. Objectives: This study has been planned to evaluate the presentation and course of Indian girls with TS. Methods: Patients with TS presenting to our referral endocrinology clinic were included in this study. Diagnosis of TS was done by karyotyping. A retrospective chart review of these patients formed the basis of this study. Results: A total of 55 patients with TS karyotype were seen, and the mean age at diagnosis was 12.3 years. The commonest presenting features were short stature alone seen in 37 (65.45%) and short stature with delayed puberty in 18 (32.72%). The earliest age at presentation was 4.5 years who presented with short stature. The mean height was 124.17 cm and mean BMI 17...
Turner syndrome: Four challenges across the lifespan
American Journal of Medical Genetics Part A, 2005
Turner syndrome (TS) is a sex chromosome condition that occurs in approximately 1/2500 live female births. Despite the prevalence of this chromosomal condition, the challenges these women face throughout their lives are not fully understood. This qualitative research study aimed to characterize the subjective experiences of individuals with Turner syndrome throughout their lifespan, to investigate their concerns and obstacles, and to offer insight into the strengths and weaknesses of health care delivery, as they perceived them.
Turner's syndrome: diagnosis and management with limited resources
2008
Turner’s syndrome a chromosomal disorder characterized by gonadal dysgenesis was first described in 1938. Other features of Turners syndrome include short stature and a variety of somatic anomalies.1,2 The birth prevalence of Turner’s syndrome has been estimated to be from one in 2000 to one in 5000 female live births.2 Turner’s syndrome is not always accompanied by distinctive features and most often is not diagnosed in infancy. However later in childhood short stature may become obvious while in adulthood, the prominent features are those of sexual infantilism.1-4 The varied manifestations and the far reaching effects in the persons affected are also depicted in this case series.
The epidemiology of Turner syndrome
International Congress Series, 2006
The epidemiology of Turner syndrome is largely unknown. A few studies of prevalence and incidence of the syndrome have been performed based on large chromosome surveys, and based on these studies it may be estimated that Turner syndrome occur in 50 per 100,000 liveborn females. A considerable delay in diagnosis of new cases of Turner syndrome exists in all studied populations, emphasizing clinical vigilance, and some are only diagnosed upon reaching adulthood. Based on available data morbidity is increased due to a number of conditions and diseases. As a result mortality is also increased. Better care and medical treatment of females with Turner syndrome will likely reduce the increased morbidity and mortality.
Late Presentation of Turner Syndrome and Its Complications
Journal of Clinical and Health Sciences, 2018
Turner syndrome is one of the most common sex chromosome abnormalities with an estimated true prevalence of 1 in 2,000 in newborns. This case report is of a girl who presented to the adult endocrinologist at 16 years of age and subsequently diagnosed with Turner syndrome. Despite frequenting clinics for unrelated ailments, her short stature was overlooked hence not investigated for a causative pathology. The aim of this report is to explore the diagnostics of Turner syndrome, hormone treatments available and the importance of starting treatment early. KEYWORDS: Turner syndrome, short stature, primary amenorrhoea, osteoporosis
Care of girls and women with Turner syndrome: beyond growth and hormones
Endocrine Connections, 2017
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 psyc...
Journal of clinical research in pediatric endocrinology, 2018
A comprehensive survey was conducted to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. A structured questionnaire prepared by the Turner study group in Turkey, which covered relevant aspects of patient care in TS was sent to 44 pediatric endocrinology centers. Eighteen centers (41%) responded to the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus. Thirteen centers (72.2%) performed GH stimulation tests. Only four centers (22.2%) used oxandrolone in patients with TS with very short stature. The majority of the centers relied on bone age and breast development to assess estrogen adequacy, though together with variable combin...