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The standard diagnostic procedure for women under age 25 includes a cytogenetic examination; however, this examination is often not performed for older patients. Fertil Steril. Finding The One Any relationship can start by catching someone's eye or serving a witty one-liner, but a meaningful connection requires a little more material. What a waste of time. The first case of a woman with X trisomy was described by Jacobs [ 2 ]. Chromosome abnormalities involving chromosomes 9 and 2 have not been reported in POF, though inv 9 has been previously reported in female infertility and other congenital anomalies References 1. Defects of the X chromosome associated with POF include complete deletion of one X Turner syndrome , trisomy X or partial defects in form of deletions or X-autosome translocations 9. Low ATP levels may impair oogenesis and result in accelerated apoptosis of germ cells. But the role of oxidative stress needs to be confirmed by other studies on patients from different geographical areas and from different ethnicities.


J Med Genet. The study protocol was approved by institutional review board, and all participants gave their written informed consent. Read article at publisher's site DOI : Cited by 1 article PMID: Corresponding author.


This article has been cited by other articles in PMC. Her chief complaints were amenorrhea and infertility of 1 year's duration. It should be noted that the most common cause of POF is sex chromosome aneuploidy, especially Turner's syndrome 45, X. It has been reported that oocytes maintain a delicate balance of pro and anti-oxidants to minimize oxidative stress Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.

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Goswami et al. The cause of POF remains undetermined in majority of the cases. Indian J Med Res. The involvement of the X chromosome may not be limited to POF but may influence the broader spectrum of menopausal age Social Networking.
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All the patients having primary amenorrhea were included in the study. Nobuo Sugawara, Email: pj. Several genes responsible for oogenesis are present on the critical region of X chromosome and interrupted by balanced translocations which may lead to POF 13 ,
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Free to read. X chromosome defects may lead to the deletion or disruption of genes which are critical for ovarian function Endokrynol Pol , 61 2 , 01 Mar
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Abstract Introduction Case reports Discussion References. Happy Fishing! Observation of familial cases with POF indicates the role of genetic aberrations in its pathogenesis 5. Category Social Networking.
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Am J Med Genet , , 45 , — G-banding 20 : Giemsa staining of chromosome preparation after proteolytic enzyme treatment revealed G-banding. Initially, we treated these patients as usual infertile women, because they had normal physical status with a little taller height and amenorrhea, until we examined chromosome analysis and obtained a diagnosis of 47, XXX. X chromosome defects may lead to the deletion or disruption of genes which are critical for ovarian function
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