Endo-ERN webinar: Molecular diagnostic testing of imprinting disorders and related growth disturbances


On Tuesday March 2nd at 17:00 – 18:00 CET an Endo-ERN webinar about “Molecular diagnostic testing of imprinting disorders and related growth disturbances” is organised. The Endo-ERN webinar will be held by Prof Thomas Eggermann from University Hospital Aachen, Germany.

Molecular diagnostic testing imprinting disorders and related growth disorders is challenging due to the broad spectrum of molecular defects. Additionally, the decision on the molecular testing algorithm is hindered by the clinical heterogeneity of these entities. However, the precise identification of the nature of the defect is often a prerequisite for the clinical management and genetic counselling. 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 growth 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.

In this webinar, the different types of molecular alterations in patients with imprinting disorders and differential diagnosis will be reviewed, and genetic testing strategies will be explained. Based on own data it will be illustrated that comprehensive testing strategies have to be applied in diagnostic testing of congenital disorders.

The 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.

Webinar summary

WebinarMolecular diagnostic testing of imprinting disorders and related growth disturbances
DateMarch 2nd, 2021
Time17:00 – 18:00 hr
Speakerprof. Thomas Eggermann
RegistrationRegistration is closed