1,728,594 research outputs found
Disorders of sex development (DSD): an overview of recent scientific advances
No full textAbstract
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by larger populations of people with DSD diagnoses attending specialist centres, these discoveries are enabling medical doctors and scientists to map out the long-term clinical presentations of a number of conditions. In terms of benefits to patients, the new discoveries have paid dividends in two specific ways. First of all, even though knowledge may remain incomplete, our understanding of the risk of malignancy in retained gonads has improved significantly. Consequently, care providers are in a stronger position than they have ever been to advise patients in their decision-making processes around removing or retaining their gonads. Second, more scientific understanding has led to improved fertility outcomes for women who have a uterus, as in Turner’s Syndrome, Congenital adrenal hyperplasia and Swyer’s Syndrome
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development
Full text linkIt is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional DSD team acts as the first point of contact. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents are as fully informed as possible and have access to specialist psychological support. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration
Diagnosis of DSD in Children—Development of New Tools for a Structured Diagnostic and Information Management Program within the Empower-DSD Study
No full textBackground: Current recommendations define a structured diagnostic process, transparent information, and psychosocial support by a specialized, multi-professional team as central in the care for children and adolescents with genital variations and a suspected difference of sex development (DSD). The active involvement of the child and their parents in shared decision-making should result in an individualized care plan. So far, this process has not been standardized. Methods: Within the Empower-DSD study, a team of professionals and representatives of patient advocacy groups developed a new diagnostic and information management program based on current recommendations and existing patient information. Results: The information management defines and standardizes generic care elements for the first weeks after a suspected DSD diagnosis. Three different tools were developed: a guideline for the specialized multiprofessional team, a personal health record and information kit for the child with DSD and their family, and a booklet for medical staff not specialized in DSD. Conclusions: The new information management offers guidance for patients and professionals during the first weeks after a DSD diagnosis is suspected. The developed tools’ evaluation will provide further insight into the diagnostic and information-sharing process as well as into all of the involved stakeholders’ needs
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
No full textInternational audienceDisorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these cases. The genetic causes of 46,XX-SRY negative testicular DSD as well as ovotesticular DSD are poorly defined. Duplications involving a region located ∼600 kb upstream of SOX9, a key gene in testis development, were reported in several cases of 46,XX DSD. Recent studies have narrowed this region down to a 78 kb interval that is duplicated or deleted respectively in 46,XX or 46,XY DSD. We identified three phenotypically normal patients presenting with azoospermia and 46,XX testicular DSD. Two brothers carried a 83.8 kb duplication located ∼600 kb upstream of SOX9 that overlapped with the previously reported rearrangements. This duplication refines the minimal region associated with 46,XX-SRY negative DSD to a 40.7-41.9 kb element located ∼600 kb upstream of SOX9. Predicted enhancer elements and evolutionary-conserved binding sites for proteins known to be involved in testis determination are located within this region
Monogenic forms of DSD: An update
No full textInternational audienceDSD encompasses a wide range of pathologies that impact gonad formation, development and function in both 46,XX and 46,XY individuals. The majority of these conditions are considered to be monogenic, although the expression of the phenotype may be influenced by genetic modifiers. Although considered monogenic, establishing the genetic etiology in DSD has been difficult compared to other congenital disorders for a number of reasons including the absence of family cases for classical genetic association studies and the lack of evolutionary conservation of key genetic factors involved in gonad formation. In recent years, the widespread use of genomic sequencing technologies has resulted in multiple genes being identified and proposed as novel monogenic causes of 46,XX and/or 46,XY DSD. In this review, we will focus on the main genomic findings of recent years, which consists of new candidate genes or loci for DSD as well as new reproductive phenotypes associated with genes that are well established to cause DSD. For each gene or loci, we summarise the data that is currently available in favor of or against a role for these genes in DSD or the contribution of genomic variants within well-established genes to a new reproductive phenotype. Based on this analysis we propose a series of recommendations that should aid the interpretation of genomic data and ultimately help to improve the accuracy and yield genetic diagnosis of DSD
Supplementary Material for: Creation of an Electronic Resource Repository for Differences of Sex Development (DSD): Collaboration Between Advocates and Clinicians in the DSD-Translational Research Network
No full textIntroduction: People with differences of sex development (DSD) and their families need education about these conditions while receiving emotional and peer support to participate in shared decision-making, reduce social isolation, and optimize physical and psychosocial outcomes. Barriers to education and support include limited knowledge and awareness by healthcare providers, tension among patient and medical communities, varied quality of educational resources, and the sensitive nature of DSD. We aimed to create an electronic repository of vetted quality online resources about DSD. Methods: The electronic resource repository (e-RR) was a collaboration between affected individuals and advocates and healthcare providers in the DSD-Translational Research Network (DSD-TRN), an NIH-supported consortium of US teams committed to standardizing and optimizing care in DSD. The e-RR development and ongoing growth involved: (1) identification of resources by the project team (3 advocates and 1 physician), (2) evaluation and feedback by DSD-TRN clinical teams, (3) creation of the e-RR, and (4) review and revision. Twitter-like descriptions accompanied each entry; resources were categorized by target age, audience, and condition. Results: Thirty-seven web-based educational, peer and advocacy support, and clinician-oriented resources were reviewed. Eight of 10 DSD-TRN teams responded to a survey regarding resource inclusion. Awareness of individual resources varied widely. Consensus was achieved when opinions differed; 30 resources were included. The e-RR is available online and as a downloadable booklet at http://www.accordalliance.org/resource-guide/. Conclusion: The e-RR increases awareness of and access to vetted educational and support resources for those with DSD and healthcare providers. It represents important collaboration between advocates and providers
Product & customer profiling for DSD
Full text linkThesis (M. Eng. in Logistics)--Massachusetts Institute of Technology, Engineering Systems Division, 2008.Includes bibliographical references (leaves 69-70).This thesis is to analyze the suitability of different products, suppliers and customers for Direct Store Delivery (DSD) model with respect to the qualitative profile and the quantitative benefits. During the research, interviews with retailers, suppliers and industrial experts provide the basis and insight for the qualitative analysis of factors that make certain products, suppliers and customers best suitable for a DSD model. In order to quantify the benefits that DSD can bring to the entire supply chain, a generic model of the DSD system is built. Based on the quantitative analysis, the stock-out at store shelf is simulated in order to understand the effects of DSD operations to the minimization of stock-out costs at the store shelf, a major benefit that DSD is assumed to generate. With the conceptual framework and the quantitative model, this thesis is aimed at providing supply chain managers a comprehensive perspective to adopt DSD for their products and customers.by Liang Chen.M.Eng.in Logistic
Disorders of sex development (DSD) web-based information: quality survey of DSD team websites
No full textAbstract
Objectives
Consumers rely on online health information, particularly for unusual conditions. Disorders of Sex Development (DSD) are complex with some aspects of care controversial. Accurate web-based DSD information is essential for decision-making, but the quality has not been rigorously evaluated. The purpose of the present study was to assess the quality of online health information related to DSD presented by 12 pediatric institutions comprising the NIH-sponsored DSD-Translational Research Network (DSD-TRN).
Methods
DSD-TRN sites identified team webpages, then we identified linked webpages. We also used each institution search engine to search common DSD terms. We assessed webpages using validated tools: the Simple Measure of Gobbledygook (SMOG) determined reading level, the Patient Education Materials Assessment Tool (PEMAT) evaluated content for understandability and actionability, and the DISCERN tool assessed treatment decision-making information (for hormone replacement and surgery). We developed a “Completeness” measure which assessed the presence of information on 25 DSD topics.
Results
The SMOG reading level of webpages was at or above high-school grade level. Mean (SD) PEMAT understandability score for Team Pages and Team Links was 68% (6%); on average these pages met less than 70% of the understandability criteria. Mean (SD) PEMAT actionability score was 23% (20%); few patient actions were identified. The DISCERN tool determined that the quality of information related to hormone treatment and to surgery was poor. Sites’ webpages covered 12–56% of the items on our Completeness measure.
Conclusions
Quality of DSD online content was poor, and would be improved by using a variety of strategies, such as simplifying word choice, using visual aids, highlighting actions patients can take and acknowledging areas of uncertainty. For complex conditions such as DSD, high-quality web-based information is essential to empower patients (and caregiver proxies), particularly when aspects of care are controversial.http://deepblue.lib.umich.edu/bitstream/2027.42/173185/1/13633_2019_Article_65.pd
FORMULATION OF THE VERTICAL PROFILE OF DSD
No full textRadar rain gage can observe rainfall instantaneously and widely. But the rainfall intensity on the ground is not equal to the rainfall intensity estimated from radar rain gage. To improve accuracy in the radar-estimated rainfall, we observe and analyze the vertical profile of the rain drop size distribution (DSD), and utilize the results into the new formulation of the vertical profile of DSD.The vertical profile of DSD is observed by a vertical pointing VHF Doppler radar in Japan named MU (Middle and Upper) radar.The MU radar can detect vertical profile of Doppler spectrum that are composed of both the rain drop itself and air movements. The DSD on the ground is observed by Disdrometer.Firstly, a new formulation of DSD which holds among rainfall type, rainfall intensity and DSD observed Disdrometer is developed. Secondly, the analysis of vertical profile of DSD in rainfall type are carried out to investigate the possibility of finding relations in DSD.Radar rain gage can observe rainfall instantaneously and widely. But the rainfall intensity on the ground is not equal to the rainfall intensity estimated from radar rain gage. To improve accuracy in the radar-estimated rainfall, we observe and analyze the vertical profile of the rain drop size distribution (DSD), and utilize the results into the new formulation of the vertical profile of DSD.The vertical profile of DSD is observed by a vertical pointing VHF Doppler radar in Japan named MU (Middle and Upper) radar.The MU radar can detect vertical profile of Doppler spectrum that are composed of both the rain drop itself and air movements. The DSD on the ground is observed by Disdrometer.Firstly, a new formulation of DSD which holds among rainfall type, rainfall intensity and DSD observed Disdrometer is developed. Secondly, the analysis of vertical profile of DSD in rainfall type are carried out to investigate the possibility of finding relations in DSD
- …
