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.

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 Regional Cerebral Glucose Metabolism in Turner Syndrome

1990 ◽  
Vol 17 (2) ◽  
pp. 140-144 ◽  
Author(s):  
C. Clark ◽  
H. Klonoff ◽  
M. Hayden
Keyword(s):  
Glucose Metabolism ◽  
Turner Syndrome ◽  
Parietal Cortex ◽  
Sex Chromosome ◽  
Occipital Cortex ◽  
Cerebral Glucose Metabolism ◽  
Brain Maturation ◽  
Visual Spatial ◽  
Primary Sensory Cortex ◽  
Regional Cerebral Glucose Metabolism

ABSTRACT:Regional cerebral glucose metabolism was examined in females with Turner syndrome, a sex chromosome abnormality. Previous studies have found a visual/spatial cognitive anomaly in these women but, to date, no abnormalities in brain structure or function have been associated with the condition. In the present study, decreases in regional metabolism were found in the occipital and parietal cortex. The involvement of the occipital cortex, although consistent with the observed cognitive anomalies, has not been suggested previously as an area dysfunction. Because the occipital cortex is a primary sensory cortex, the reduction of glucose metabolism in the parietal cortex may reflect a lack of innervation from the occipital cortex. Besides insight into the functional specialization of the brain, these findings are also consistent with previous reports on animals regarding the effects of estrogen in brain maturation.

scholarly journals Torsion of the Ovary in Infancy, a Rare Emergency; A Case Report

2021 ◽  
pp. 90-96
Author(s):  
Abdelilah Radi ◽  
Karima Larbi Ouassou ◽  
Amal Hassani ◽  
Rachid Abilkassem ◽  
Aomar Agadr ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Clinical Evaluation ◽  
Clinical Picture ◽  
Acute Abdominal Pain ◽  
Rare Condition ◽  
Ovarian Torsion ◽  
Positive Diagnosis ◽  
Hemorrhagic Risk ◽  
Made In

Torsion of the ovary is a rare condition whose diagnosis remains difficult given the non-specificity of the clinical picture as well as the difficulty of clinical evaluation, especially in young girls. It is a surgical emergency because it involves the vital prognosis by the hemorrhagic risk, and functional prognosis by the risk of infertility. The clinical picture is dominated by acute abdominal pain. Our work reports the case of a 2-year-old girl in whom the diagnosis of ovarian torsion was made in front of an atypical clinical picture. Laparoscopy is the method of choice for making a positive diagnosis and performing a conservative procedure as described in this work.

scholarly journals Commercial services and urban space reconversion in Romania (1990–2017)

2020 ◽  
Vol 60 (1) ◽  
Author(s):  
Radu Săgeată
Keyword(s):  
Urban Space ◽  
Urban System ◽  
Living Standard ◽  
Iron Curtain ◽  
Global Culture ◽  
Large Cities ◽  
Social Segregation ◽  
Specialist Services ◽  
Made In

Concentrating incomes in large cities has encouraged the development of specialist services and the opening of big commercial units. The downfall of ideological barriers east of the former Iron Curtain made global culture combine with endemic sub-cultures, influenced by the living standard. The only limitation of this process appears to be social segregation which restricts demand and creates preferential segments of users. In Romania, financial segregation is directly reflected in the commercial investment made in Bucharest and in the large cities, mostly in the centre and western part of the country. The paper analyses the correlation of financial and commercial services, as well as their location and dispersion strategies at the level of the Romanian urban system.

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.

Speech and language therapy in palliative care

2015 ◽  
Author(s):  
Tim Luckett ◽  
Katherine L.P. Reid
Keyword(s):  
Palliative Care ◽  
Multidisciplinary Care ◽  
Research Literature ◽  
Speech And Language ◽  
Language Therapy ◽  
Care Needs ◽  
Speech And Language Therapy ◽  
The Core ◽  
Specialist Services ◽  
Palliative Phase

Palliative care is an emerging specialty within the field of speech and language therapy (SLT); the discipline is currently under-represented both in specialist services and the research literature. This belies the fact that many patients in the palliative phase suffer problems with swallowing (dysphagia) and communication, the core domains of SLT practice. This chapter provides an overview of difficulties encountered in these domains by people with life-limiting conditions together with common approaches to assessment and management. Assessment and management should be person-centred, integrated into multidisciplinary care, and seek to maintain function via minimal intervention for maximum gain. More research is needed to inform appropriately integrated, person-centred models of SLT provision that enable difficulties with communication and swallowing to be addressed alongside other symptoms and care needs. It seems likely that difficulties in these domains are currently under-identified and under-treated in many cases.

ASD and offending: reflections of practice in from a New Zealand perspective

2017 ◽  
Vol 8 (2) ◽  
pp. 90-98 ◽  
Author(s):  
David Bathgate
Keyword(s):  
New Zealand ◽  
Rare Condition ◽  
Background Information ◽  
Content Type ◽  
The United Kingdom ◽  
Specialist Services ◽  
Secure Unit ◽  
The Uk ◽  
Training Position ◽  
The Impact

Purpose There is growing awareness in New Zealand (NZ) of the impact that Autistic Spectrum Disorder (ASD) has on individuals and their families and the ability to engage in health services. Although it is a relatively rare condition, approximately 1 per cent of the population will have ASD, directly affecting approximately 40,000 individuals in NZ. The purpose of this paper is to provide some reflections and questions on what we can learn from a NZ perspective. This is based on an overview of the limited literature around ASD and offending and the author’s experience in the UK working in a medium secure unit. Design/methodology/approach Through a past site visit as part of the annual international conference on the Care and Treatment of Offenders with an Intellectual and/or Developmental Disability in the United Kingdom (UK), the author became aware of the medium secure forensic unit for male patients with ASD at the Roseberry Park Hospital (UK’s Tees, Esk and Wear Valleys NHS Foundation Trust). During the author’s advanced training in forensic psychiatry with the Royal Australian and New Zealand College of Psychiatrists the author was privileged to be able to apply and be accepted for a four-month sabbatical training position at this hospital. Findings Outlined is background information about ASD and review findings from the limited literature on ASD and offending. Also outlined is the author’s learning as a trainee working in medium secure unit for people with ASD who have offended, and finally how this experience may help in the development of services in NZ, given that at this stage such services are under-developed. Originality/value To be able to share the valuable experience and learning opportunity the author was able to have, as well as raise the awareness of ASD generally, and specifically the need for specialist services for the small number of people with ASD who come into contact with Justice Services.

Turner syndrome: the case of the missing sex chromosome

1993 ◽  
Vol 9 (3) ◽  
pp. 90-93 ◽  
Author(s):  
Andrew R. Zinn ◽  
David C. Page ◽  
Elizabeth M.C. Fisher
Keyword(s):  
Turner Syndrome ◽  
Sex Chromosome

scholarly journals Chronic lymphocytic leukaemia in pregnancy: a case report and literature review

2009 ◽  
Vol 2 (4) ◽  
pp. 168-169 ◽  
Author(s):  
Cynthia Maxwell ◽  
Rosheen Grady ◽  
Michael Crump
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Chronic Lymphocytic Leukaemia ◽  
Lymphocytic Leukaemia ◽  
Rare Condition ◽  
Multidisciplinary Care ◽  
Pregnancy Care ◽  
Active Disease ◽  
In Pregnancy

Chronic lymphocytic leukaemia is a rare condition reported in pregnancy. We review a case of a woman presenting for pregnancy care with active disease and review the literature on this condition. This case raises several important issues with regard to managing complex medical diseases such as leukaemia in pregnant women, including the role of multidisciplinary care.

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