Two forms have been described: in type I, POF related infertility is an adjunct to the condition, and type II is not associated with POF (55). BPES type I is mapped to 3q22-23(54). Two genes are identified within the breakpoint region. One of the genes, termed FOXL2 appears predominantly in the ovaries of adult humans. In previous reports, all mutations had been exclusively localized in the FOXL2 gene (56). However, two other members of this family, FOXO1A and FOXO3A, are candidate genes for the development of POF (57).
Autoimmune polyendocrinopathy- candidiasisectodermal dystrophy (APECED)
AIRE gene, is responsible for autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy syndrome (APECED) (53). This mutation, which is mapped to chromosome 21q23, can lead to hypogonadism and ovarian insufficiency (53).
Steroidogenic enzyme defect
Several congenital enzyme defects can disrupt estrogen synthesis; these defects result in low estrogen, delayed puberty, amenorrhea, and high serum FSH concentration levels despite the existence of normal-appearing primordial follicles in the ovary. Defects in the steroidogenic acute regulatory enzyme (StAR), CYP17, and aromatase enzymes cause these clinical and histological abnormalities (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).
Gonadotropin receptor dysfunction
FSH and luteinizing hormone (LH) have important roles in the recruitment, development, and maturation of ovarian follicles. FSH and LH receptor genes map to 2p21. Some studies have reported inactivating mutations of the FSH or LH receptor genes in connection with prienorrhea and hypergonadotropic ovarian failure (60, 61). Continue reading “BPES is an autosomal dominant, sex-limited condition with a distinctive eyelid phenotype”