Research Appraisal on Primary Ovarian Insufficiency.
Research Appraisal on Primary Ovarian Insufficiency
Aimara Morales
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South University
9/18/17
Running head: RESEARCH APPRAISAL 1
RESEARCH APPRAISAL ON PRIMARY OVARIAN INSUFFICIENCY 3
| Citation | Conceptual Framework | Design/Method | Sample/setting | Major variables | Measurement | Data analysis | Findings | Appraisal |
| Murray, A.,Schoemaker, M.J., Bennett, C.E., Ennis, S., Macpherson, J. N., Jones, M. …Swerdlow, A.J. (2014). Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. Genetics in Medicine, 16(1), 19–24. http://doi.org/10.1038/gim.2013.64 | Inthe absence of a population-based estimate, assessing the effect of premutationincidence and intermediate alleles is difficult in POI over the reproductive life span. | The study determined the prevalence of premutation and the intermediate alleles in women with primary ovarian insufficiency and early menopause. | Population of more than 2,000 women was sampled from the Breakthrough Generations for individuals who underwent menopause earlier than 46 years of age. | CGG repeat length
Age at natural menopause |
It applied the polymorphic CGG trinucleotide repeats | The study used STATAv12 for logistic and linear regression analysis to test the association between CGG repeat length and age at natural menopause | All expanded premutation-sized alleles observed in controls were <66 repeats.
The larger premutation alleles (>65 repeats) were all in women with either EM or POI |
FMR1premutations may are notthe most common cause of ovarian failure as previously estimated, but they are still significant cause of ovarian failure. |
| Le QuesneStabej, P., Williams, H. J., James, C., Tekman, M., Stanescu, H. C., Kleta, R., …GOSgene. (2016). STAG3 truncating variant as the cause of primary ovarian insufficiency. European Journal of Human Genetics, 24(1), 135–138. http://doi.org/10.1038/ejhg.2015.107 | POI is heterogeneous with a few causative genes discovered so far | This was a multipoint parametric linkage study on the HumanCytoSNP-12v2-1_H Beadarray | Study involved five family members: two affected sisters, and an unaffected sister | Complete penetrance
Disease allele frequency |
Multipoint parametric linkage analysis
Whole-exome sequencing was done on the proband. Linkage analysis identified a locus on chromosome 7 |
Variant annotation and interpretation analyses using the Ingenuity Variant Analysis software version 3.0.20140422 | A multipoint parametric linkage analysisshowed five linked regions on chromosomes 2, 5, 7 and 16.
They also revealed a logarithm of odds (LOD) score for a consanguineous pedigree matching the one expected of 1.93 |
There is potential for involvement of other meiosis-specific genes in the cohesin complex associated with POI pathogenesis |
| Nao, S.,Nobuhito, Y., Seido, T.,Yodo, S.,Midori, T., …Kazuhiro, K. (2015).Successful fertility preservation following ovarian tissue vitrification in patients with primary ovarian insufficiency. Human Reproduction, 30(3). Pp. 608–615https://doi.org/10.1093/humrep/deu353 | Vitrificationapproach preceding IVA treatment is a potential therapy for infertility in POI patients with ovaries containing residual follicles | Clinicalstudy involving laparoscopic surgery, ovariectomy
The study also monitored Follicle growth was trough ultrasound and serum estrogen levels |
Involved 37 infertile women with POI. The patients had had a shorter duration of amenorrhea | Follicle growth
Serum estrogen levels |
Non-parametric Kruskal–Wallis test was used in evaluating the differences of time from the Follicle growth was of diagnosis of POI to ovariectomy
|
Fisher’s exact test was used in analysis of proportion of patients with endometriosis. | Numbers of ovarian strips from POI patients were limited compared with those in ‘normal’ ovaries in cancer patients, in which,
POI: mean 7.2 ± 5.4 strips, range: 1.5–25 per ovary, n = 37 Cancer patient: mean 19.2 ± 5.1 strips, range: 11–30 per ovary, n = 18). |
The present approach was a representation of success in cryopreservation of ovarian tissues through vitrificationto generate functional mature oocytes for treating infertility. |
| Chemaitilly, W., et al. (2017). Premature Ovarian Insufficiency in Childhood Cancer Survivors: A Report From the St. Jude Lifetime Cohort. The Journal of Clinical Endocrinology & Metabolism, 102(7). Pp. 2242–2250, https://doi.org/10.1210/jc.2016-3723
|
Long-term follow-up data on premature ovarian insufficiency (POI) in childhood cancer survivors are limited. | Cross-sectional Study at the St. Jude Lifetime Cohort | Nine hundred twenty-one participants of median age of 31.7 years were evaluated at a median of 24.0 years following cancer diagnosis | Prevalence of POI
Risk factors Long-term adverse health outcomes |
Multivariable Cox regression for studyingthe association between treatment-related risk factors and POI.
|
Multivariable logistic regression analysed the associations between POI and markers for cardiovascular disease, bone mineral density (BMD), and frailty. | Prevalence of POI was estimated at 10.9%. Patients with a BMI ≥30 kg/m2 at the time of the Cohort assessment had less likelihood of POI diagnosis. | A low BMD and frailty are independently associated with POI. |
| Norling, A., et al. (2014).Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.
Human Reproduction, 29(8). Pp. 1818–1827. https://doi.org/10.1093/humrep/deu149
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Mutation that affects regulatory regions of growth differentiation factor 9 (GDF9) are associated with novel candidate genes for POI. | This was a case–control study | 95 controls were used together with an additional population 28 patients with POI over a 1-year period |
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Research Appraisal on Primary Ovarian Insufficiency
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