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

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  1. DIAGNOSIS OF ENDOCRINE DISEASE: Sex steroid action in adolescence: too much, too little; too early, too late

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  • 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
  • European Reference Network on Rare Endocrine Conditions (ENDO-ERN
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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.

Original languageEnglish
JournalOrphanet Journal of Rare Diseases
Volume15
Issue number1
Pages (from-to)144
ISSN1750-1172
DOIs
Publication statusPublished - 8 Jun 2020

ID: 60160497