Premature ovarian failure and FMR1 gene mutations: an update.
نویسنده
چکیده
Screening for fragile X premutations is recommended for the routine work-up for any woman presenting with premature ovarian failure (POF). The reason for this is that women with POF have an approximate 5% chance of conceiving and this possibility may be increased further in the FRAXA premutation subgroup. Women need to be informed if they are at risk of having a child with fragile X syndrome. In addition, the identification of a family in which the fragile X repeat site is expanded can lead to the identification of other female family members at risk of transmitting fragile X syndrome. The identification of an index case should therefore trigger genetic counseling throughout the pedigree according to the wishes of the family.
منابع مشابه
P-206: Genetic Variations of FSH Receptor Gene in Patients with Premature Ovarian Failure and Diminished Ovarian Reserve Referred to Royan Institute
Background: Immaturity of the ovarian follicles results in an infertility citation called Premature Ovarian Failure (POF), affecting approximately 1% of women under the age of 40. Women with this disorder go through early menopause and have high levels of gonadotropin hormones (FSH & LH). Diminished Ovarian Reserve (DOR) is another infertility disorder in which women’s ovaries have the ability ...
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Premature ovarian failure (POF) is a heterogeneous disorder, defined as menopause under age 40 years. The prevalence is 1%; POF before age 30 years is much less common. Chromosomal causes have long been recognized - visible deletions of the X chromosome, 45,X/46,XX mosaicism, and autosomal rearrangements (balanced translocations). Toxins or iatrogenic causes (e.g., chemotherapeutic agents) are ...
متن کاملP-203: Examination of FMR1 Gene Transcription and Protein Expression in Patients with Diminished Ovarian Reserve Reffered to Royan institute
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متن کاملInm-7: Genetic Etiologies of Premature Ovarian Failure
Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can...
متن کاملP-204: Evaluation of FMR1 Gene Regulatory Region for The Epigenetic Mark of H3K9 Acetylation in Blood Cells of Patients with Diminished Ovarian Reserve Reffered to Royan Institute
Background: Diminished ovarian reserve (DOR) is a heterogeneous disorder causing infertility, characterized by a decreased number of oocytes and high FSH level, the genetic cause of which is still unknown. The association between FMR1 premutations(50-200 CGG repeats) and the premature ovarian failure( POF) disease has suggested that FMR1 gene acts as a risk factor for POF and recently for DOR p...
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ورودعنوان ژورنال:
- Annales d'endocrinologie
دوره 71 3 شماره
صفحات -
تاریخ انتشار 2010