Early onset familial premature ovarian insufficiency


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Inclusion Criteria

  • 4 consecutive months of amenorrhoea (primary or secondary), AND
  • Elevated serum FSH of >30IU/L on two separate occasions at least 6 weeks apart, AND
  • Age of onset is <30 years, AND
  • At least one other close family member (sister, mother, aunt or first cousin) with POF, AND
  • Availability of at least 1 additional affected family member to take part in the project

No male relatives should be recruited to this disorder. Unaffected female relatives should only be recruited if they are aged over 45 years, AND menstruation ceased after the age of 45 years.

Early onset familial premature ovarian insufficiency Exclusion Criteria

  • X chromosome abnormality such as Turner syndrome
  • Presence of FMR1 premutation
  • Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)
  • Presence of thyroid or adrenal auto-antibodies

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing for fragile X premutation and chromosome abnormalities is strongly recommended PRIOR TO RECRUITMENT as these may not be reliably detected by WGS using current analysis techniques.

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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