scholarly journals Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Simona Baronchelli ◽  
Donatella Conconi ◽  
Elena Panzeri ◽  
Angela Bentivegna ◽  
Serena Redaelli ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Function ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Population Group ◽  
Ovarian Failure ◽  
Chromosome Mosaicism ◽  
Low Level

The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.

Premature ovarian failure with FMR1 premutation, X chromosome mosaicism and blood lymphocyte microchimerism

Climacteric ◽  
2010 ◽  
Vol 14 (2) ◽  
pp. 289-293 ◽  
Author(s):  
K. Gersak ◽  
D. Franic ◽  
A. Veble ◽  
I. Zupanic Pajnic ◽  
N. Teran ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Blood Lymphocyte ◽  
Ovarian Failure ◽  
Fmr1 Premutation ◽  
Chromosome Mosaicism

scholarly journals Investigating the role of X chromosome breakpoints in premature ovarian failure

2012 ◽  
Vol 5 (1) ◽  
pp. 32 ◽  
Author(s):  
Simona Baronchelli ◽  
Nicoletta Villa ◽  
Serena Redaelli ◽  
Sara Lissoni ◽  
Fabiana Saccheri ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Failure

Genetic investigation of four meiotic genes in women with premature ovarian failure

2008 ◽  
Vol 158 (1) ◽  
pp. 107-115 ◽  
Author(s):  
Béatrice Mandon-Pépin ◽  
Philippe Touraine ◽  
Frédérique Kuttenn ◽  
Céline Derbois ◽  
Agnes Rouxel ◽  
...  
Keyword(s):  
Amino Acid ◽  
Premature Ovarian Failure ◽  
Ovarian Function ◽  
Indirect Evidence ◽  
Ovarian Failure ◽  
Polar Amino Acid ◽  
Exon 2 ◽  
Caucasian Women ◽  
Control Study

ObjectiveThe goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF).DesignCase–control study.MethodsBlood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls).ResultsA single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V).ConclusionsThe symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon.

scholarly journals Cytogenetic & Molecular analysis in Premature Ovarian Failure

2021 ◽  
Author(s):  
CHETAN SAHNI ◽  
Rima DADA
Keyword(s):  
Granulosa Cell ◽  
Molecular Analysis ◽  
Premature Ovarian Failure ◽  
Transforming Growth Factor ◽  
Ovarian Function ◽  
Chromosomal Abnormalities ◽  
Single Gene ◽  
Ovarian Failure ◽  
Healthy Controls ◽  
Altered Expression

Introduction: Premature Ovarian Failure (POF) being a heterogeneous genetic disease involves the interaction of multiple genetic defects and environmental factors and has been associated with several chromosomal abnormalities, single gene mutations, and genetic polymorphisms. BMP15 is a member of the transforming growth factor β (TGF-β) family. BMP15 gene product (protein) have 3 domians, mature domain (c-terminal region) of BMP15 binds to receptors located on granulosa cell surface to participate in key steps regarding ovarian function, such as granulosa cell proliferation and follicle maturation, ovulation rate modulation, oocyte competence determination and regulating granulosa cell sensitivity to FSH. Single nucleotide polymorphisms (SNPs) of the BMP-15 gene are associated with POF. Materials & Methods: 30 POF patients and 30 healthy age matched controls were recruited for cytogenetic and molecular analysis. 10 ml whole blood was collected for karyotyping and PCR and PCR was performed for known SNPs of BMP-15 gene (-9C>G, 538G>A, 788insTCT and 852C>T) respectively. Amplified PCR products were sequenced commercially. Observation/Result: Thirty cases (mean age 30 years) and thirty healthy controls (mean age 23 years) were recruited for the study. On cytogenetic analysis 2 cases had a 45, XO chromosomal complement. One case was heterozygous for the SNP (-9C>G) and one control was homozygous for the same SNP. Discussion: The prevalence of this SNP was about 10.7% in cases & 3.3% in healthy controls. This polymorphism in promoter region may cause altered expression of the gene and results in POF.

scholarly journals Triple X Syndrome Woman Presenting as Premature Ovarian Failure

2013 ◽  
Vol 4 (3) ◽  
pp. 96-98
Author(s):  
C Chandana
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Sex Chromosome ◽  
Chromosome Abnormality ◽  
Ovarian Failure ◽  
Chromosomal Analysis ◽  
Secondary Amenorrhea ◽  
Normal Phenotype ◽  
Triple X Syndrome

ABSTRACT Triple X syndrome is a sex chromosome abnormality characterized by extra X chromosome, occurring in approximately 1 in 1,000 female births. This condition often remains undiagnosed as most of them have normal phenotype, puberty and fertility. We report a case of Triple X syndrome with normal phenotype and intelligence presented with secondary amenorrhea and diagnosed to have premature ovarian failure. This case emphasizes the need for chromosomal analysis in women presenting with premature ovarian failure leading to primary or secondary amenorrhea. How to cite this article Chandana C, Venkatesh S. Triple X Syndrome Woman Presenting as Premature Ovarian Failure. Int J Infertility Fetal Med 2013;4(3):96-98.

scholarly journals The role of mitochondria in premature ovarian failure: A review

2020 ◽  
Vol 6 (1) ◽  
Keyword(s):  
Premature Ovarian Failure ◽  
Ovarian Reserve ◽  
Ovarian Function ◽  
Maternal Inheritance ◽  
Mitochondrial Disorder ◽  
Ovarian Failure ◽  
Premature Menopause ◽  
Mtdna Mutations ◽  
Mitochondrial Transfer

Premature ovarian failure (POF) is used to describe women under 40 years old with amenorrhea, hypergonadotropic hypogonadism, and infertility as a result of cessation of ovarian function. It has been reported that almost 20% of women who consult for infertility have signs of premature ovarian ageing. The mitochondrial disorder is one of the critical agents in premature menopause and the occurrence of POF. Due to the maternal inheritance of POF along with the dependence of folliculogenesis upon the mitochondrial biogenesis and bioenergetics, it has been suggested that a generalized mitochondrial defect is likely involved in POF. A fuller understanding of the mitochondrial role in POF could contribute to the better management of women with POF in the future. The aim of this review was to illustrate the role of mitochondria in POF. The oocyte mitochondrial DNA (mtDNA) content in women with diminished ovarian reserve is significantly lower than in women with normal ovarian reserve. It has been evidenced that mitochondrial genetic disorders and mitochondrial oxidative stress are associated with POF. According to the maternal inheritance of mtDNA, genetic testing should be performed to detect mtDNA mutations involved in POF before starting treatment strategies. If these mutations are present, it could suggest that healthy mitochondrial transfer during ART should be used to prevent the transmission of POF caused by mtDNA mutation to the female offspring. Future strategies aimed at treatment of POF-related infertility should take into account the significance of the oocyte mitochondrial role in the occurrence of this disorder.

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