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Primary ovarian insufficiency (POI), also called premature ovarian insufficiency and premature ovarian failure, is the partial or total loss of reproductive and hormonal function of the ovaries before age 40 because of follicular (egg producing area) dysfunction or early loss of eggs.
This causes the ovaries to have inflammation, atrophy, and fibrosis. Such changes in the ovaries can cause them to not function properly. This disease is caused by primary ovarian insufficiency (POI), where reproduction and hormonal function of the ovaries stops before the age of 40.
Premature ovarian insufficiency (POI) is impairment of the ovaries and how they work before the age of 40 years. It can be caused by multiple factors, one being genetic. Genes and their influence determine the initial number of the primordial follicles, impact on the rate of follicular atresia , and are impactful on the age of menopause .
Fragile X-associated primary ovarian insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46,XX. [1] The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. [2]
Iatrogenic, e.g., due to radiation, chemotherapy or surgery, such as laserization of the surface of the ovary to treat endometriosis. Excessive laparoscopic ovarian drilling has been reported to cause premature ovarian failure. [10] [11] (The primordial follicles are located in the thin outer one-millimeter layer of the ovary.) [12]
Human genetic variants that likely cause dysregulation of critical meiotic processes have been identified in 14 female infertility associated genes. [53] A major cause of female infertility is premature ovarian insufficiency. [54] This insufficiency is a heterogeneous disease that affects about 1% of women who are under the age of 40. [54]
Primary ovarian insufficiency (POI). This is when a woman’s ovaries stop functioning normally before age 40. This condition is often linked to genetic, metabolic, or immune system disorders.
FOXL2: mutation can cause blepharophimosis, ptosis, epicanthus inversus syndrome (syndrome with eyelid defects and primary ovarian insufficiency) [17] eIFB genes ( EIF2B2 , EIF2B4 , and EIF2B5 ): involved in protein production, mutations have been associated with leukodystrophy and primary ovarian failure [ 17 ] [ 24 ]