The genetic diagnosis of rare endocrine disorders of sex development and maturation:a survey among Endo-ERN centres
| Autor: | Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti |
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| Přispěvatelé: | Institut Català de la Salut, [Persani L] Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy. Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy. [Cools M] Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium. [Ioakim S] Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy. [Faisal Ahmed S] Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom. [Andonova S] National Genetic Laboratory, UHOG 'Maichin dom', Medical University, Sofia, Bulgaria. [Avbelj-Stefanija M] Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. [Fernandez-Alvarez P] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Clinical Genetics, Clinical sciences, Medical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
disorders of sex development
Endocrinology Diabetes and Metabolism enfermedades del sistema endocrino [ENFERMEDADES] Otros calificadores::/diagnóstico [Otros calificadores] GUIDELINES Enquestes congenital hypogonadotropic hypogonadism Endocrinology afecciones patológicas signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES] SDG 3 - Good Health and Well-being Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT] Endocrine System Diseases [DISEASES] SDM Internal Medicine Other subheadings::/diagnosis [Other subheadings] Medicine and Health Sciences disorders of sex development primary ovarian Glàndules endocrines - Malalties - Diagnòstic Medicine(all) Pathological Conditions Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES] diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS] primary ovarian insufficiency insufficiency NGS next-generation sequencing Malalties congènites - Diagnòstic reproductive medicine rare diseases or syndromes |
| Zdroj: | Persani, L, Cools, M, Ioakim, S, Ahmed, S F, Andonova, S, Avbelj-Stefanija, M, Baronio, F, Bouligand, J, Bruggenwirth, H T, Davies, J H, De Baere, E, Dzivite-Krisane, I, Fernandez-Alvarez, P, Gheldof, A, Giavoli, C, Gravholt, C H, Hiort, O, Holterhus, P-M, Juul, A, Krausz, C, Lagerstedt-Robinson, K, McGowan, R, Neumann, U, Novelli, A, Peyrassol, X, Phylactou, L A, Rohayem, J, Touraine, P, Westra, D, Vezzoli, V & Rossetti, R 2022, ' The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres ', Endocrine Connections, vol. 11, no. 12, e220367 . https://doi.org/10.1530/EC-22-0367 ENDOCRINE CONNECTIONS Scientia Endocrine Connections, 11(12):e220367. Bioscientifica Ltd Persani, L, Cools, M, Ioakim, S, Faisal Ahmed, S, Andonova, S, Avbelj-Stefanija, M, Baronio, F, Bouligand, J, Bruggenwirth, H T, Davies, J H, De Baere, E, Dzivite-Krisane, I, Fernandez-Alvarez, P, Gheldof, A, Giavoli, C, Gravholt, C H, Hiort, O, Holterhus, P-M, Juul, A, Krausz, C, Lagerstedt-Robinson, K, McGowan, R, Neumann, U, Novelli, A, Peyrassol, X, Phylactou, L A, Rohayem, J, Touraine, P, Westra, D, Vezzoli, V & Rossetti, R 2022, ' The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres ', Endocrine Connections, vol. 11, no. 12, e220367 . https://doi.org/10.1530/EC-22-0367 |
| ISSN: | 2049-3614 |
| DOI: | 10.1530/EC-22-0367 |
| Popis: | Disorders of sex development; Next-generation sequencing; Primary ovarian insufficiency Trastornos del desarrollo sexual; Secuenciación de próxima generación; Insuficiencia ovárica primaria Trastorns del desenvolupament sexual; Seqüenciació de nova generació; Insuficiència ovàrica primària Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches. This publication has been supported by Endo-ERN, which is co-funded by the European Union’s 3rd Health Programme (CHAFEA Framework Partnership Agreement No 739527). |
| Databáze: | OpenAIRE |
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