Abstract
Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea). It is a heterogeneous disorder affecting approximately 1% of women <40 years, 1:10,000 women by age 20 and 1:1,000 women by age 30. The most severe forms present with absent pubertal development and primary amenorrhea (50% of these cases due to ovarian dysgenesis), whereas forms with post-pubertal onset are characterized by disappearance of menstrual cycles (secondary amenorrhea) associated with premature follicular depletion. As in the case of physiological menopause, POF presents by typical manifestations of climacterium: infertility associated with palpitations, heat intolerance, flushes, anxiety, depression, fatigue. POF is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Beyond infertility, hormone defects may cause severe neurological, metabolic or cardiovascular consequences and lead to the early onset of osteoporosis. Heterogeneity of POF is also reflected by the variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. POF has a strong genetic component. X chromosome abnormalities (e.g. Turner syndrome) represent the major cause of primary amenorrhea associated with ovarian dysgenesis. Despite the description of several candidate genes, the cause of POF remains undetermined in the vast majority of the cases. Management includes substitution of the hormone defect by estrogen/progestin preparations. The only solution presently available for the fertility defect in women with absent follicular reserve is ovum donation.
Highlights
Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles before the age of 40 years
X chromosome abnormalities (e.g. Turner syndrome) represent the major cause of primary amenorrhea associated with ovarian dysgenesis
Premature ovarian failure is defined as a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles/ arrested folliculogenisis before the age of 40 years [1,2]
Summary
Both primary and secondary forms of ovarian failure are biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Forms of POF linked to the finding of ovarian cysts may be due to LH resistance (LHR mutations) which presents with secondary amenorrhea. Polycystic ovaries: alterations at ovarian ultrasound, normal gonadotropin and high androgen levels. Enzymatic defects of steroidogenesis (e.g. 21-hydroxylase deficiency): alterations at physical and adrenal ultrasound, normal gonadotropin, high androgen and adrenocorticotropic hormone (ACTH) levels. The expansion of CGG repeats is associated with gene silencing resulting in male mental retardation and in POF with secondary amenorrhea in female carriers [8]. Genetic investigations may be useful for the early diagnosis of genetic defects underlying POF, when a female is born from a family with other female members affected with POF. FSHR in a series of women with POF [24], auto-antigens and specific auto-antibodies for the diagnosis of autoimmune forms of isolated POF remain to be determined
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