[7] The two criteria are the repeated elevation of the follicle stimulating hormone (FSH), which increases dramatically when a woman enters menopause, and the loss of menstruation for at least 4–6 months.
[8] In FMR1 premuation carriers, the likelihood of receiving a clinical diagnosis of FXPOI is about 20% and increased FSH levels and altered menstrual cycles become particularly evident between 30 and 40 years of age.
[9] Women planning to conceive before the cessation of periods are often encouraged to consult a genetic counselor or medical geneticist to understand their individual risk for having a child with fragile X syndrome.
The FMR1 premutation is commonly identified using reflexive genetic testing after identification of a child with fragile X syndrome found in a family.
[13] The AGG interruptions are correlated with the risk that the premutation-length allele could expand in the oocyte, or egg cell, and lead to a child with fragile X syndrome.
[18] Though the greatest risks for female carriers of an FMR1 premuation are developing POI and having a child with fragile X syndrome, there are other possible neurological and neuropsychiatric conditions that may occur.
[19] More recently, increased interest in neurological features and cognition of female premutation carriers has suggested a broader range of neuropsychiatric conditions associated with premutation-sized CGG repeats.
[28] The loss of 1 or 2 AGG interruptions in the 5' region of the CGG repeat allele leads to increased likelihood that a premutation will expand to a full mutation from one generation to the next.
[14][26][29] Individuals with FMR1-related disorders and families have access to several communities to find support groups and information about ongoing research and new therapies.