Genetic associations with diminished ovarian reserve: a systematic review of the literature

Greene, Alexis; Patounakis, George; Segars, James H.

doi:10.1007/s10815-014-0257-5

Cited by 95 publications

(64 citation statements)

References 60 publications

(126 reference statements)

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“…The aetiology is heterogeneous and unknown in a large proportion of older women as well as younger women with early ovarian aging, although decreased ovarian reserve (DOR) is considered to be a major component. The mechanisms of DOR include genetic make‐up, early developmental conditions, adult exposures, as well as immunological damage, which may affect the ovarian reserve and hence long‐term fertility and reproductive health. Currently, there are controversial opinions about oocyte quality in younger women with a diminished oocyte reserve .…”

Section: Discussionmentioning

confidence: 99%

Endometriosis has no negative impact on outcomes of in vitro fertilisation in women with poor ovarian response

Yang

Huang

Cai

et al. 2016

BJOG

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Objective To compare the in vitro fertilisation (IVF) outcomes of poor ovarian responders among women with laparoscopically diagnosed minimal-mild endometriosis (Group A), moderate-severe endometriosis (Group B) and those without endometriosis (Group C). The comparisons were made separately for age groups younger than 35 years and 35 years or older.Design Retrospective study.Setting A university-affiliated hospital in Guangzhou, China.Population 495 women younger than 35 years old and 543 women aged 35 or older who had poor ovarian response with or without laparoscopically diagnosed endometriosis.Methods Poor ovarian response (POR) was diagnosed using the Bologna criteria. First cycle parameters were analysed over the same period of time from January 2011 to October 2014.Main outcome measures The primary endpoint was the live birth rate per embryo transfer cycle. Secondary outcome measures were clinical pregnancy rate, cycle cancellation rate and miscarriage rate.Results In women aged 35 or older no differences were found among the three subgroups in terms of live birth rate, clinical pregnancy rate, cycle cancellation rate or miscarriage rate; in women aged younger than 35 years, the clinical pregnancy rates were 62.96, 45.45 and 43.27% for Groups A, B and C, respectively (P = 0.028). The live birth rate, cycle cancellation rate and miscarriage rate were not significantly different. Compared with the older group of women, the younger women had a significantly higher live birth rate (P < 0.001).Conclusions A woman's age is the most important factor governing the live birth rate with IVF. Endometriosis has no consistent impact on IVF outcomes in women with POR.Keywords Aging, assisted reproductive technology outcome, endometriosis, poor ovarian reserve, poor ovarian responder.Tweetable abstract Endometriosis has no negative impact on IVF outcomes in women with poor ovarian response.

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Section: Discussionmentioning

confidence: 99%

Endometriosis has no negative impact on outcomes of in vitro fertilisation in women with poor ovarian response

Yang

Huang

Cai

et al. 2016

BJOG

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“…DOR is commonly defined in young reproductive-aged women as an AMH level b7.14 pmol/L (1 ng/mL; multiplier for conversion from ng/mL to pmol/L is ×7.14) or an FSH N10 IU/L on day 3 of the menstrual cycle. POI is generally defined as amenorrhea or irregular cycles with an FSH N 40 IU/L [20][21][22]. Women with DOR generally have no clinical symptoms and often have regular menses, or perhaps a short follicular phase, and are only detected after ovarian reserve testing with an AMH, FSH or antral follicle count by ultrasound [22].…”

Section: Introductionmentioning

confidence: 99%

“…POI is generally defined as amenorrhea or irregular cycles with an FSH N 40 IU/L [20][21][22]. Women with DOR generally have no clinical symptoms and often have regular menses, or perhaps a short follicular phase, and are only detected after ovarian reserve testing with an AMH, FSH or antral follicle count by ultrasound [22]. Although POI and natural menopause are both recognized by FSH values N40 IU/L, POI differs from natural menopause in that patients may still have intermittent menses, may ovulate and can occasionally become pregnant albeit at a lower rate than normal [23].…”

Section: Introductionmentioning

confidence: 99%

“…However, transvaginal imaging is not an acceptable procedure for most pediatric-and adolescent-aged patients. Girls and women who have significant diminished ovarian reserve may still have normal FSH levels [22]. An elevated day 3 FSH generally indicates a reduced follicular pool and is a late indicator of ovarian failure, and when FSH is N40 IU/L, fertility preservation options are typically no longer possible.…”

Section: Introductionmentioning

confidence: 99%

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The effects of hydroxyurea and bone marrow transplant on Anti-Müllerian hormone (AMH) levels in females with sickle cell anemia

Elchuri

Williamson

Brown

et al. 2015

Blood Cells, Molecules, and Diseases

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“…Gene symbols, expanded name and chromosome location are listed in Table 1 in alphabetical order for each of the 370 obesity genes. Similarly, 153 genes were found to be associated with human infertility and reproduction (Table 2) when searching the medical literature and based on genome-wide association, linkage and gene mutation or variant studies and 21 of these genes had a recognized role in obesity [32][33][34][35][36][37][38][39][40][41][42][43][44].…”

Section: Resultsmentioning

confidence: 99%

Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction

Butler

McGuire

Manzardo

2015

J Assist Reprod Genet

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Purpose Obesity is a growing public health concern now reaching epidemic status worldwide for children and adults due to multiple problems impacting on energy intake and expenditure with influences on human reproduction and infertility. A positive family history and genetic factors are known to play a role in obesity by influencing eating behavior, weight and level of physical activity and also contributing to human reproduction and infertility. Recent advances in genetic technology have led to discoveries of new susceptibility genes for obesity and causation of infertility. The goal of our study was to provide an update of clinically relevant candidate and known genes for obesity and infertility using high resolution chromosome ideograms with gene symbols and tabular form. Methods We used computer-based internet websites including PubMed to search for combinations of key words such as obesity, body mass index, infertility, reproduction, azoospermia, endometriosis, diminished ovarian reserve, estrogen along with genetics, gene mutations or variants to identify evidence for development of a master list of recognized obesity genes in humans and those involved with infertility and reproduction. Gene symbols for known and candidate genes for obesity were plotted on high resolution chromosome ideograms at the 850 band level. Both infertility and obesity genes were listed separately in alphabetical order in tabular form and those highlighted when involved with both conditions. Results By searching the medical literature and computer generated websites for key words, we found documented evidence for 370 genes playing a role in obesity and 153 genes for human reproduction or infertility. The obesity genes primarily affected common pathways in lipid metabolism, deposition or transport, eating behavior and food selection, physical activity or energy expenditure. Twenty-one of the obesity genes were also associated with human infertility and reproduction. Gene symbols were plotted on high resolution ideograms and their name, precise chromosome band location and description were summarized in tabular form. Conclusions Meaningful correlations in the obesity phenotype and associated human infertility and reproduction are represented with the location of genes on chromosome ideograms along with description of the gene and position in tabular form. These high resolution chromosome ideograms and tables will be useful in genetic awareness and counseling, diagnosis and treatment to improve clinical outcomes.

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Genetic associations with diminished ovarian reserve: a systematic review of the literature

Cited by 95 publications

References 60 publications

Endometriosis has no negative impact on outcomes of in vitro fertilisation in women with poor ovarian response

Endometriosis has no negative impact on outcomes of in vitro fertilisation in women with poor ovarian response

The effects of hydroxyurea and bone marrow transplant on Anti-Müllerian hormone (AMH) levels in females with sickle cell anemia

Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction

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