PGD, CVS, and amniocentesis are options for prenatal diagnosis in situations with maternal premutation or full mutation (50)
There is a need for each woman diagnosed with spontaneous POF to be informed of her increased risk for carrying a premutation in the FMR1 gene and about the availability of genetic testing to detect this condition. Identification of families that carry the FMR1 premutation would permit women of childbearing age to be counseled about their reproductive options and monitored more closely for the possible development of premature ovarian failure.
Heterozygous mutation of the bone morphogenetic protein 15 (BMP15) gene has been reported in two sisters with POF (52). Galactosemia is a rare autosomal recessive disorder which arises due to a deficiency in the enzyme GALT (53). The exact mechanism of ovarian failure has not been elucidated in patients with galactosemia and POF.
POF related infertility is an adjunct to BPES type I. In previous reports, all mutations were exclusively localized in the FOXL2 gene (56). However, in recent studies, it was discovered that two other members of this family, FOXO1A and FOXO3A, are candidate genes for the development of POF (57). Mutation in AIRE gene has been identified in patients with hypogonadism and ovarian insufficiency (53).
Defects in the steroidogenic acute regulatory enzyme (StAR), CYP17, and aromatase enzymes cause prienorrhea and POF (58, 59). Lack of appropriate negative feedback by peripheral estrogen on gonadotropins may lead to excessive follicular growth and increased risk of ovarian torsion and infarction in these hypoestrogenized patients (59).
Some studies reported inactivating mutations of the FSH or LH receptor genes in connection with prienorrhea and hypergonadotropic ovarian failure (60, 61). Polymorphisms in estrogen receptor -? (ESR-1) and L- isoaspartyl- 0-methytransferase (PCMTI) genes are associated with idiopathic POF (63, 70).