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Premature Ovarian Failure (premature + ovarian_failure)
Selected AbstractsEffectiveness of microlaparoscopy in the diagnosis of premature ovarian failureJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 2 2006Noriko Abe Abstract Aim: Premature ovarian failure (POF) cases contain a mixture of cases possessing follicles (type A) and those depleted of follicles (type B). Differentiation between the two types is important because the treatment policy and pregnancy prognosis vary greatly. The objective of this study was to examine the usefulness of microlaparoscopy in the differentiation of types A and B. Methods: Among 66 patient with POF diagnosed at our department between May 1996 and April 2004, 47 patients who gave informed consent and underwent microlaparoscopy were studied. The cases were divided into four groups based on the laparoscopic ovarian morphology. These groups were analyzed with respect to patient background, blood hormone levels, antinuclear antibody positive rate, visualization of the ovary on transvaginal ultrasonography, presence or absence of follicles in biopsy specimen, and number of follicles. Result: No significant differences in patient background and serum hormone levels were observed between groups. There was a tendency of increase in antinuclear antibody positive rate, increase in proportion of cases with follicles, and increase in number of follicles as the ovarian morphology approached normal. Transvaginal ultrasonography failed to identify the ovary in all the patients. Conclusion: Microlaparoscopy is useful in the differentiation between type A and B POF, and is further expected to become an indicator of response to treatment. [source] Gonadotrophin receptor blocking antibodies measured by the use of cell lines stably expressing human gonadotrophin receptors are not detectable in women with 46,XX premature ovarian failureCLINICAL ENDOCRINOLOGY, Issue 3 2004Massimo Tonacchera Summary background, Premature ovarian failure (POF) is defined by cessation of ovarian function after puberty and before the age of 40. The syndrome is characterized by amenorrhoea, oestrogen deficiency and elevated levels of gonadotrophins. Autoimmunity has been proposed as a mechanism for some cases of destruction or malfunction of ovarian follicles. POF is often associated with type I and type II polyglandular autoimmune syndromes. It has also been postulated that receptors such as the LH and FSH receptors might become targets for blocking antibodies and such antibodies could be a cause of ovarian failure. patients and methods, Sixty-nine patients with POF isolated or associated with other endocrine autoimmune diseases (autoimmune thyroid diseases, Addison's disease, type 1 diabetes mellitus, multiple sclerosis, myasthenia gravis) were studied. All the patients had secondary amenorrhoea. The patient group had a median age of 33·1 years (range 15,57). Ovarian failure had been diagnosed at a median age of 29 years (range 15,39). The median time since diagnosis was almost 1 year but in six patients gonadal insufficiency had appeared 10,30 years earlier. All had a normal chromosomal karyotype (46, XX). Patients with POF were characterized by duration of amenorrhoea > 1 year, with elevated FSH and LH levels and undetectable or low oestrogen levels. Cell lines stably expressing recombinant human LH (CHO-LHr) and FSH (CHO-FSHr) receptors were prepared and used to search for antibodies able to inhibit LH- or FSH-stimulated cAMP production. Immunoglobulins extracted from sera of patients with POF were incubated with CHO-LHr and CHO-FSHr in the presence of human recombinant CG and FSH, respectively. results and conclusions, None of the immunoglobulin G (IgG) preparations from patients with POF was able to inhibit the activity of the FSH- and CG-stimulated cAMP production. [source] Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qterCLINICAL GENETICS, Issue 5 2005Article first published online: 22 FEB 200 No abstract is available for this article. [source] Testing association for markers on the X chromosome,GENETIC EPIDEMIOLOGY, Issue 8 2007Gang Zheng Abstract Test statistics for association between markers on autosomal chromosomes and a disease have been extensively studied. No research has been reported on performance of such test statistics for association on the X chromosome. With 100,000 or more single-nucleotide polymorphisms (SNPs) available for genome-wide association studies, thousands of them come from the X chromosome. The X chromosome contains rich information about population history and linkage disequilibrium. To identify X-linked marker susceptibility to a disease, it is important to study properties of various statistics that can be used to test for association on the X chromosome. In this article, we compare performance of several approaches for testing association on the X chromosome, and examine how departure from Hardy-Weinberg equilibrium would affect type I error and power of these association tests using X-linked SNPs. The results are applied to the X chromosome of Klein et al. [2005], a genome-wide association study with 100K SNPs for age-related macular degeneration. We found that a SNP (rs10521496) covered by DIAPH2, known to cause premature ovarian failure (POF) in females, is associated with age-related macular degeneration. Genet. Epidemiol. 2007. Published 2007 Wiley-Liss, Inc. [source] Closely linked cis -acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes,HUMAN MUTATION, Issue 12 2007S. Ennis Abstract In its expanded form, the fragile X triplet repeat at Xq27.3 gives rise to the most common form of inherited mental retardation, fragile X syndrome. This high population frequency persists despite strong selective pressure against mutation-bearing chromosomes. Males carrying the full mutation rarely reproduce and females heterozygous for the premutation allele are at risk of premature ovarian failure. Our diagnostic facility and previous research have provided a large databank of X chromosomes that have been tested for the FRAXA allele. Using this resource, we have conducted a detailed genetic association study of the FRAXA region to determine any cis -acting factors that predispose to expansion of the CGG triplet repeat. We have genotyped SNP variants across a 650-kb tract centered on FRAXA in a sample of 877 expanded and normal X chromosomes. These chromosomes were selected to be representative of the haplotypic diversity encountered in our population. We found expansion status to be strongly associated with a ,50-kb region proximal to the fragile site. Subsequent detailed analyses of this region revealed no specific genetic determinants for the whole population. However, stratification of chromosomes by risk subgroups enabled us to identify a common SNP variant which cosegregates with the subset of D group haplotypes at highest risk of expansion (,=17.84, p=0.00002). We have verified that this SNP acts as a marker of repeat expansion in three independent samples. Hum Mutat 28(12), 1216,1224, 2007. © 2007 Wiley-Liss, Inc. [source] Effectiveness of microlaparoscopy in the diagnosis of premature ovarian failureJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 2 2006Noriko Abe Abstract Aim: Premature ovarian failure (POF) cases contain a mixture of cases possessing follicles (type A) and those depleted of follicles (type B). Differentiation between the two types is important because the treatment policy and pregnancy prognosis vary greatly. The objective of this study was to examine the usefulness of microlaparoscopy in the differentiation of types A and B. Methods: Among 66 patient with POF diagnosed at our department between May 1996 and April 2004, 47 patients who gave informed consent and underwent microlaparoscopy were studied. The cases were divided into four groups based on the laparoscopic ovarian morphology. These groups were analyzed with respect to patient background, blood hormone levels, antinuclear antibody positive rate, visualization of the ovary on transvaginal ultrasonography, presence or absence of follicles in biopsy specimen, and number of follicles. Result: No significant differences in patient background and serum hormone levels were observed between groups. There was a tendency of increase in antinuclear antibody positive rate, increase in proportion of cases with follicles, and increase in number of follicles as the ovarian morphology approached normal. Transvaginal ultrasonography failed to identify the ovary in all the patients. Conclusion: Microlaparoscopy is useful in the differentiation between type A and B POF, and is further expected to become an indicator of response to treatment. [source] Myasthenia gravis and premature ovarian failureMUSCLE AND NERVE, Issue 2 2004Monique M. Ryan MMed Abstract We describe a patient who developed seropositive myasthenia gravis 16 years after she was diagnosed with autoimmune premature ovarian failure with antibodies to the receptor for follicle-stimulating hormone (FSH). Although thymectomy led to improvement of her myasthenic symptoms, menses did not resume. Such combined seropositivity for antibodies to acetylcholine and ovarian hormone receptors in a patient with myasthenia gravis and premature ovarian failure may reflect common disease mechanisms, although the precise pathogenesis of these disorders remains ill-defined. Muscle Nerve 30: 231,233, 2004 [source] Survival of ovarian allografts in an experimental animal modelPEDIATRIC TRANSPLANTATION, Issue 6 2007Roger G. Gosden Abstract: Transplantation of ovarian tissue is a promising strategy for fertility preservation in young cancer patients with premature ovarian failure if they have cryopreserved their own tissue before undergoing gonadotoxic treatment. However, extension of ovary donation to children and adults seeking treatment for hypogonadism is controversial unless the tissue does not provoke an immune reaction or specific tolerance can be safely and effectively achieved. The survival of heterotopic ovarian allografts was tested in a mouse model. Isografts were placed under the kidney capsule of ovariectomized animals differing at the H-2 haplotype (H-2d or H-2k). Within three wk, and in contrast to isografts, the allografts were rejected, although their survival was extended when donor and host strains shared the same haplotype (H-2k). Allograft survival was not improved if the tissue was implanted orthotopically. When monoclonal antibodies to CD4 antigens were administered at doses exceeding those effective for long-term tolerance to cardiac allografts, graft survival was prolonged in one of two strain combinations, but they failed to restore fertility. These results indicate that the ovary is not an immunologically privileged organ, as the older literature suggested, and chronic immunosuppression is likely to be required for ovarian allografts in clinical settings. [source] Treatment of autoimmune ovarian disease by co-administration with mouse zona pellucida protein 3 and DNA vaccine through induction of adaptive regulatory T cellsTHE JOURNAL OF GENE MEDICINE, Issue 7 2008Jinyao Li Abstract Background Autoimmune ovarian disease (AOD) caused by auto-reactive T cells is considered a major reason for human premature ovarian failure, which affects 5% of women worldwide. Methods and Results To develop an effective treatment for AOD, we showed that the co-administration of mouse zona pellucida protein 3 (mZP3) protein and DNA vaccine encoding the mZP3 was able to meliorate AOD in an AOD murine model induced by the mZP3. We observed that established AOD in mice reverted to a normal ovarian morphology without notable T-cell infiltration in the co-administrated group; whereas mice in the control groups developed severe AOD. The amelioration appears to be antigen specific because other co-administration combinations failed to reverse AOD and correlates with significant reductions of pathogenic T-cell responses and productions of tumor necrosis factor-, and interferon-,. Furthermore, the melioration is apparently associated with the induction of mZP3 specific regulatory T cells that exhibit a phenotypic CD4+CD25,FoxP3+IL-10+ in the co-administrated group, which can be transferred to reverse AOD in vivo. Conclusions Thus, co-administration of mZP3 DNA and protein vaccines can be used to treat established AOD, and may provide a novel immunotherapy strategy to treat other autoimmune diseases. Copyright © 2008 John Wiley & Sons, Ltd. [source] An Investigation of FRAXA Intermediate Allele Phenotype in A Longitudinal SampleANNALS OF HUMAN GENETICS, Issue 2 2006S. Ennis Abstract The FRAXA trinucleotide repeat at Xq27.3 gives rise to fragile X syndrome when fully expanded, and both premature ovarian failure (POF) and fragile X tremor and ataxia syndrome (FXTAS) when in the premutation range. Reports of phenotypic effects extending into the intermediate repeat range are inconsistent but some studies suggest that these smaller expansions predispose to special educational needs (SEN). This study utilises the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort to investigate cognitive and behavioural variables that might be associated with FRAXA intermediate alleles. The current study failed to find any strong evidence of association of FRAXA intermediate alleles with SEN, behavioural problems or cognitive difficulties. However, our findings illustrate some of the difficulties encountered in identifying individuals with SEN. The power to identify specific components of cognitive and behavioural difficulties was reduced due to elective drop-out, which is characteristic of longitudinal studies. Our findings demonstrate the non-random loss of participants from this cohort and highlight problems that may arise when such data are used in genetic association studies. [source] Gonadotrophin receptor blocking antibodies measured by the use of cell lines stably expressing human gonadotrophin receptors are not detectable in women with 46,XX premature ovarian failureCLINICAL ENDOCRINOLOGY, Issue 3 2004Massimo Tonacchera Summary background, Premature ovarian failure (POF) is defined by cessation of ovarian function after puberty and before the age of 40. The syndrome is characterized by amenorrhoea, oestrogen deficiency and elevated levels of gonadotrophins. Autoimmunity has been proposed as a mechanism for some cases of destruction or malfunction of ovarian follicles. POF is often associated with type I and type II polyglandular autoimmune syndromes. It has also been postulated that receptors such as the LH and FSH receptors might become targets for blocking antibodies and such antibodies could be a cause of ovarian failure. patients and methods, Sixty-nine patients with POF isolated or associated with other endocrine autoimmune diseases (autoimmune thyroid diseases, Addison's disease, type 1 diabetes mellitus, multiple sclerosis, myasthenia gravis) were studied. All the patients had secondary amenorrhoea. The patient group had a median age of 33·1 years (range 15,57). Ovarian failure had been diagnosed at a median age of 29 years (range 15,39). The median time since diagnosis was almost 1 year but in six patients gonadal insufficiency had appeared 10,30 years earlier. All had a normal chromosomal karyotype (46, XX). Patients with POF were characterized by duration of amenorrhoea > 1 year, with elevated FSH and LH levels and undetectable or low oestrogen levels. Cell lines stably expressing recombinant human LH (CHO-LHr) and FSH (CHO-FSHr) receptors were prepared and used to search for antibodies able to inhibit LH- or FSH-stimulated cAMP production. Immunoglobulins extracted from sera of patients with POF were incubated with CHO-LHr and CHO-FSHr in the presence of human recombinant CG and FSH, respectively. results and conclusions, None of the immunoglobulin G (IgG) preparations from patients with POF was able to inhibit the activity of the FSH- and CG-stimulated cAMP production. [source] | |||||||||||||