Premature Ovarian Insufficiency

One of the most common causes of reduced female fertility.

Premature Ovarian Failure (POF), also known as Primary Ovarian Insufficiency (POI), is a condition of low or bad oocyte storage relative to woman’s age.

POF is due to genetic causes in 1 in 4 women with this condition.

However, many women with POF have either been misdiagnosed or diagnosed after they have 35 years of age when they have difficulty in conceiving a child.

Premature Ovarian Faillure Test examines the most common genetic causes for POF through the repeat analysis in the Fragile X FMR1 gene.

• Exact analysis of CGG repeats in the Fragile X FMR1 gene with 100% sensitivity.

Fragile X syndrome is the most common hereditary genetic cause of autism and mental disabilities.

What effect do CGG repeats have on women’s health?

5-44 repeats: normal; no effect
45-54 repeats: intermediate; no effect
55-200 repeats: premutation; Danger to POF
200 repeats: full mutation. Fragile X (Fragile X)
1 in 150 women are carriers of premutation for Fragile X *

* Women with premutations of FMR1 have not only a high risk of developing POF, but also have an increased risk of having a child with Fragile X syndrome because of the potential expansion of CGG to arise to the next generation and lead to a “complete “mutation.

REF // Chapman C. et al. (2015) The genetics of premature ovarian failure: current perspectives. Int J Womens Health. 7:799-810.

Goswami D. et al. (2007) Premature ovarian failure. Horm Res. 68:196-202.

Lozano R. et al. (2014) Fragile X spectrum disorders. Intractable Rare Dis Res. 3:134-146.

For your part, all is needed is a simple blood draw from your hand. Then your sample is shipped in appropriate packaging to certified laboratories for the most thorough and advanced look at the possible genetic causes of your infertility. The answer is available approximately 2 weeks after your sample is received in the laboratories.

Many professional medical societies, including the American Society of Reproductive Medicine (ASRM), the American College of Obstetricians and Gynecologists (ACOG) and the American Urology Society (AUA), recommend that men and women with infertility be genetically screened.

Premature Ovarian Failure screening is addressed to any woman with POF characteristics or a family history of this condition.

The features of POF are:

• Oligomenorrhea or amenorrhea
• Elevated levels of gonadotropin in serum
• Low levels of estradiol

Premature Ovarian Failure Screening reveals whether a woman has decreased ovum reserves in the ovaries due to genetic factors leading to premature ovarian failure (POF).

O έλεγχος πρόωρης ωοθηκικής ανεπάρκειας απευθύνεται σε οποιαδήποτε γυναίκα με χαρακτηριστικά της POF ή ένα οικογενειακό ιστορικό της κατάστασης αυτής.