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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.
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 ]
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]
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.
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. [1]
Increased levels of these hormones will cause the body to not start puberty, not undergo menarche, and not develop secondary sex characteristics. [9] [10] If ovarian tissue is present and produces some amount of hormones, limited menstrual cycles can occur. [9] 46,XX gonadal dysgenesis can manifest from a variety of causes. [6]
In rare cases, OHSS can kidney failure as well as blood clots; in very rare cases, OHSS can be life-threatening: In 2022, a 23-year-old woman from India died during an IVF procedure as OHSS caused ...
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]