Author's Response to Reviews Ovarian Dysfunction and Fmr1 Alleles in a Large Italian Family with Pof and Fraxa Disorders: Case Title: Report Authors
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P-203: Examination of FMR1 Gene Transcription and Protein Expression in Patients with Diminished Ovarian Reserve Reffered to Royan institute
Background: Diminished ovarian reserve (DOR) is a primary infertility disorder characterized by a reduction in the number and/or quality of oocytes, usually accompanied by high follicle-stimulating hormone (FSH) levels and regular menses. DOR aetiology factors are different, such as genetic factors, ageing, autoimmune disorders, adrenal gland impairment factors and iatrogenic causes, e.g. chemo...
متن کاملI-36: The Necessity of Genetic Screening in Premature Ovarian Failure and Diminished Ovarian Reserved Patients
Variability in the subfertile patient population excludes the possibility of a single approach to controlled ovarian stimulation (COS) covering all the requirements of a patient. Modern medical science has made great advances in the understanding and the development of new drugs, treatment options and quantitative methods that can identify single patient characteristics. Factors that reduce fol...
متن کاملStudies of FRAXA and FRAXE in women with premature ovarian failure.
Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF). We screened 147 women with idiopathic POF for the number of trinucleotide repeats at the FRAXA and FRAXE loci. We found six women with FRAXA premutations, including four familial and two sporadic cases, but no women with FRAXA full mutations. At the FRAXE locus there...
متن کاملPremature ovarian failure and FMR1 gene mutations: an update.
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. I...
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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