The European Cooperation in Science and Technology (COST) es una organización cuyo objetivo es crear redes de investigación, llamadas Acciones COST. Estas redes ofrecen un espacio abierto para la colaboración entre científicos de toda Europa con el objetivo de impulsar la investigación y los avances.
Esta Acción COST ha vinculado a los principales científicos internacionales, clínicos y partes interesadas, con representación de GrApSIA, para caracterizar las DSD y proporcionar diagnósticos personalizados.
Las diferencias del desarrollo sexual (DSD) constituyen un grupo complejo de condiciones poco habituales causadas por alteraciones metabólicas cromosómicas, genéticas y endocrinas que afectan el sistema endocrino-reproductor, modulando así el fenotipo sexual de una persona determinada. Las DSD plantean grandes desafíos para nuestra comprensión del sexo y el desarrollo del género en biología, medicina y cuestiones sociales. Enormes avances científicos son posibles a través de técnicas genéticas modernas junto con una evaluación clínica y de laboratorio exhaustiva.
Esta Acción ha ayudado a comprender la heterogeneidad clínica, así como a revelar los puntos en común fisiopatológicos entre diferentes formas de DSD a nivel molecular. Además, beneficiará a la ciencia de la comunidad internacional y también a la formación de una Red de Referencia Europea. Dado que DSD es un término general para una serie de condiciones, la mayoría de las cuales implican más que conocimientos puramente médicos o científicos, la Acción prestará la debida atención a las implicaciones sociales más amplias de la investigación de DSD.
Communication With Peer Support Groups And Families – Results From An International Survey Of Specialist Care For DSD.
A. Kyriakou, M. Rozas, A.B. Dessens, J. Bryce, I. Haraldsen, V. Iotova, A. Juul, M. Krawczynski, A. Nordenskjöld, C. Sanders, O. Hiort, S.F. Ahmed
Background: Communication amongst affected people and peer support groups (PSG) is important for optimal management in DSD. However, the extent of communication that occurs at the moment is unclear.
Methods: To explore the current models of communication and to determine the current involvement of PSG in DSD care, an international survey of 124 paediatric endocrinologists,, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014.
Results: A total of 77/124(62%) clinicians, working in 74 centres, and from 38 of 42 countries (91%) responded. In 21(28%) centres, parents/individuals with DSD meet locally. Of the 77 clinicians, 48(62%) reported that they are aware of at least one PSG and, in total, 78 discrete PSG were identified. In 82% of the cases the clinicians reported that they would recommend the reported PSG to the affected person with DSD. Of the 77 clinicians, 27(35%) reported a collaboration with the MDT during the first three months after a new clinical presentation.. In such a scenario, the availability of a PSG was reported as desirable but not available by 47(61%) of the clinicians. This group of 47 consisted of 24/48(50%) clinicians who were aware of at least one PSG, and 23/29(79%) of those not aware of any PSG (p=0.008). Discussions of the results of genetic tests with the family are lead by a paediatric endocrinologist in 73/77(95%) clinical teams. Other MDT members including a clinical geneticist, in 53/77(69%), and clinical psychologist, in 12/77(16%), participate in the discussion with the family. Additional information about the condition was provided to parents by face to face discussion(96%), clinic letters(44%), web-based resources(43%), paper leaflets(38%) and links with PSG(35%). In the communication and information reported to be provided by PSG, 50% was in local or national language, 45% in English and 5% in both national and English language.
Conclusion: Approximately 50% of paediatric endocrinologists in specialist DSD centres may involve or recommend a formal PSG. There is a need for greater awareness of the availability of local peer support for affected families as well as the benefit of this support.
Diagnostic Approach To A Newborn With Suspected DSD – Results From An International Survey Of Specialist Care For DSD.
A. Kyriakou, A.B. Dessens, J. Bryce, I. Haraldsen, V. Iotova, A. Juul, M. Krawczynski, A. Nordenskjöld, M. Rozas, C. Sanders, O. Hiort, S.F. Ahmed
Background: The approach to investigating a newborn with a suspected DSD is likely to vary between centres and may be influenced by local availability and technological developments.
Methods: To explore the current diagnostic practice and needs, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014.
Results: A total of 77/124(62%) clinicians, in 74 centres, from 38/42(91%) countries responded to the survey. In a suspected case of 46,XY DSD, the investigations that would be performed routinely within the first week of presentation included testosterone(97%), karyotype(96%), ultrasound(94%), 17-OHP(83%), androstenedione (75%), DHT (73%), X/Y probes by FISH/PCR(69%), cortisol(68%) and AMH(58%). Second-line investigations included further imaging(86%), array CGH(69%), cortisol ACTH stimulation(69%), hCG stimulation test(62%) and urinary steroid profile(USP)(51%). The diagnostic tests reported to be not available locally but desirable included USP(43%), array CGH(31%), DHT(21%) and AMH(21%). Clinicians reported that, locally, they had access to the following genetic tests: SRY(75%), AR(66%), SRD5A2(53%), NR5A1(53%), exomic/genomic analysis(51%), WT1(51%), DAX1(49%), SOX9(44%) and a wider panel of genes(44%). The genetic tests the clinicians would perform routinely in a case of 46,XY DSD included: SRY(51%), AR(43%), SRD5A2(31%) and NR5A1(26%), while they would perform DAX1(73%), WT1(71%), NR5A1(65%), SRD5A2(62%) and SOX9(61%) only if family history or biochemistry were suggestive. For diagnosing 5reductase deficiency, 49% clinicians reported genetic testing as the single most preferable test whilst 38% and 13% reported testosterone:DHT ratio and USP, respectively. The corresponding figures for 17HSD3 deficiency were 55%, 32% and 13%.
Conclusion: There is considerable variation in the diagnostic evaluation of a newborn with suspected DSD between centres and access to specialist tests may influence this factor. Molecular genetic testing is increasingly common in specialist centres. Clearer guidance in complex cases and collaboration through a network of centres could rationalise the need as well as access to diagnostic investigations for DSD.
Current Models Of Practice & Professional Development Of Clinicians In DSD Centres – Results From An International Survey Of Specialist Care For DSD.
A. Kyriakou, A.B. Dessens, J. Bryce, I. Haraldsen, V. Iotova, A. Juul, M. Krawczynski, A. Nordenskjöld, M. Rozas, C. Sanders, O. Hiort, S.F. Ahmed
Background: In the optimal care of children with Disorders of Sex Development(DSD), it is generally considered good practice to work within a multidisciplinary team(MDT) and engage in opportunities for professional development.
Methods: To explore the current models of MDT practice and the extent of professional development in specialist DSD centres, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014.
Results: A total of 77/124(62%) clinicians, in 74 centres, from 38/42(91%) countries responded to the survey. In 61(82%) of the centres, the lead of the team that provided DSD care was a paediatric endocrinologist with the next commonest being a clinical geneticist in 5(7%) centres. The surveyed clinicians responded that the following paediatric specialists would be routinely involved in the initial evaluation of a newborn – endocrinologist(98%), surgeon/urologist(95%), radiologist(94%), neonatologist(90%), clinical geneticist(81%) and clinical psychologist(69%). However, during the first week after presentation, a team consisting of paediatric specialists in endocrinology, surgery/urology, clinical psychology, neonatology and nursing was only possible in 29/74(38%) of centres. Over the first three months after presentation, a team comprising of paediatric specialists in endocrinology, surgery/urology, clinical psychology, nursing and clinical genetics was only possible in 33/74(43%) of the centres. A nationally organised network or plan for managing rare conditions such as DSD was reported to exist in 14/38(37%) countries. Of the 77 clinicians, 28(36%) kept a local DSD registry only, 40(52%) shared their data in a multicentre DSD registry and 9(12%) did not record any data. Participation in audits/quality improvement exercises in DSD care was reported by 13/74(18%) centres in 6/38(15%) countries. Attendance in local, national or international DSD related educational programs was reported by 69%, 78% and 82% clinicians, respectively. Case discussions(80%) and conferences/training days(54%) provide the main opportunity for centres to improve the knowledge in DSD of health care professionals outside their own centre.
Conclusion: Although an increasing number of DSD centres have access to specialist staff, the actual delivery and quality of care provided by these staff requires further exploration. Professional development and engagement in activities that may lead to improved care need further attention.
Enlaces a publicaciones:
https://bmjpaedsopen.bmj.com/content/1/1/e000132
https://www.karger.com/Article/Abstract/490081
http://abstracts.eurospe.org/hrp/0082/hrp0082wg3.8.htm
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