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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

2020; BioMed Central; Volume: 15; Issue: 1 Linguagem: Inglês

10.1186/s13023-020-01420-w

1750-1172

Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, Stefan Riedl, Birgit Rami‐Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukić, Dario Rahelić, Vassos Neocleous, Leonidas A. Phylactou, Michal Kršek, Jan Lebl, Claus Højbjerg Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, M. Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Führer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martín Reincke, Julia Rohayem, Martin Faßnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite Krisane, Vita Rovīte, Lauma Janozola, Rasa Verkauskienė, Michael Witsch, James J. Clark, Johannes A. Romijn, Thera P. Links, Nienke R. Biermasz, Sabine E Hannema, Bas Havekes, Hedi L. Claahsen‐van der Grinten, Henri Timmers, Robin P. Peeters, Gerlof D. Valk, A. A. Verrijn Stuart, Harm R. Haak, Eystein S. Husebye, Jens Bollerslev, Barbara Jarząb, Agnieszka Szypowska, J S Raposo, Dana Craiu, Doina Piciu, Ľudmila Košťálová, Jarmila Vojtková, Tadej Battelino, Roque Cardona‐Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, S. Faisal Ahmed, Mohammed Didi, Márta Korbonits, Mehul Dattani, Peter Clayton, Justin H. Davies,

Genomic variations and chromosomal abnormalities

Abstract Background With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disorders has massively expanded. However, the rapid implementation of these new molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex. Main body This joint paper of the ENDO-ERN members aims to overview chances, challenges, limitations and relevance of comprehensive genetic diagnostic testing in rare endocrine conditions in order to achieve an early molecular diagnosis. This early diagnosis of a genetically based endocrine disorder contributes to a precise management and helps the patients and their families in their self-determined planning of life. Furthermore, the identification of a causative (epi)genetic alteration allows an accurate prognosis of recurrence risks for family planning as the basis of genetic counselling. Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate. Conclusions The decision on genetic testing in the diagnostic workup of endocrine disorders should be based on their appropriateness to reliably detect the disease-causing and –modifying mutation, their informational value, and cost-effectiveness. The future assessment of data from different omic approaches should be embedded in interdisciplinary discussions using all available clinical and molecular data.