AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause

Qin, Chunrong; Yuan, Zhen; Yao, Jilong; Zhu, Wei; Wu, Weiqing; Xie, Jiansheng

doi:10.1016/j.rbmo.2014.05.003

Cited by 29 publications

(28 citation statements)

References 24 publications

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“…Although it is still debatable which of the two biomarkers is superior for ovarian reserve appraisal, both predict poor response and cycle cancellation as well as excessive response and ovarian hyperstimulation syndrome development with equivalent levels of accuracy and clinical value [6,7]. Similarly, they also predict age at natural menopause, which is a related correlate of ovarian reserve [8,9]. …”

Section: Introductionmentioning

confidence: 99%

There is a Positive Correlation Between Socioeconomic Status and Ovarian Reserve in Women of Reproductive Age

Barut¹,

Ağaçayak

Bozkurt

et al. 2016

Med Sci Monit

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BackgroundThe purpose of this study was to investigate the potential association between socioeconomic status and ovarian reserve, anti-Mullerian hormone level, antral follicle count, and follicle stimulating hormone level in women of reproductive age.Material/MethodsA total of 101 married women between 20–35 years of age who presented to the Department of Obstetrics and Gynecology, Health Research System In Vitro Fertilization (HRS IVF) Center between October 2014 and November 2015 and met the inclusion criteria were included in this study. The participants were divided into three socioeconomic groups using Kuppuswamy’s socioeconomic status scale. Thirty-one participants were assigned to the low socioeconomic status group, 37 to the middle socioeconomic status group, and 33 to the high socioeconomic status group. On days 3–6 of the menstrual cycle, 10 mL of blood was collected from the participants for follicle stimulating hormone and anti-Mullerian hormone measurements. Transvaginal ultrasonography was performed for both ovaries for the purpose of counting antral follicles measuring 2–10 mm in diameter.ResultsBoth ovarian reserve parameters, namely anti-Mullerian hormone level and antral follicle count, exhibited a significant association with socioeconomic status (p=0.000 and p=0.000, respectively). The association between follicle stimulating hormone level and socioeconomic status was also significant (p=0.000).ConclusionsA low socioeconomic status aggravated by sources of stress such as undernutrition and financial hardships affects ovarian reserve, which should be remembered in approaching infertile patients.

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Section: Introductionmentioning

confidence: 99%

There is a Positive Correlation Between Socioeconomic Status and Ovarian Reserve in Women of Reproductive Age

Barut¹,

Ağaçayak

Bozkurt

et al. 2016

Med Sci Monit

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“…The first AMHR2 mutation was described in 1995 [Imbeaud et al, 1995]. Since then, based on a review of Picard et al [2017] [Qin et al, 2014;Baxter et al, 2015;Eggers et al, 2016;Orós-Millán et al, 2017;Ren et al, 2017;Picard et al, 2017;Çakir et al, 2017;Unal et al, 2018]. The mutations that are not included in Picard et al [2017] are listed in Table 1 together with the present variant.…”

Section: Discussionmentioning

confidence: 99%

A Novel Homozygous <b><i>AMRH2</i></b> Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome

Fernández‐Cancio

Viswanath

Puzhankara

et al. 2019

Sex Dev

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Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. Homozygous or compound heterozygous alterations in AMH or AMHR2 have been identified in approximately 88% of PMDS cases. We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS.

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“…Absence of associations between the AMH and AMHRII polymorphisms and ovarian stimulation have been reported [30,35] and contradicted in another study [31]. Regarding ovarian insufficiency, findings of no association [36] were countered by other studies that found associations [33,43]. Associations of Ile49Ser and -482A>G with PCOS have been reported [38,41,43] but found absent in other studies [19,39,40,42].…”

Section: Cellular Physiology and Biochemistrymentioning

confidence: 95%

“…Publication years of the included studies ranged from 2008 to 2016. Eight studies each were Asian [33,[35][36][37][40][41][42][43] and Caucasian [16, 19, 30-32, 34, 38, 39]. In terms of study context for Ile49Ser, five focused on infertility or ovarian insufficiency [16,33,36,37,43] and three addressed stimulation issues [30,32,35].…”

Section: Meta-analysismentioning

confidence: 99%

Associations of Polymorphisms in Anti-Müllerian Hormone (AMH Ile49Ser) and its Type II Receptor (AMHRII -482 A>G) on Reproductive Outcomes and Polycystic Ovary Syndrome: a Systematic Review and Meta-Analysis

Pabalan

Montagna

Singian

et al. 2016

Cell Physiol Biochem

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Background/Aims: Reported associations of reproductive outcomes (RO) and polycystic ovary syndrome (PCOS) with genotypes of the Ile49Ser and -482A>G polymorphisms in the Anti-Müllerian hormone (AMH) gene and its type II receptor (AMHRII), respectively, have conflicting results. Methods: PubMed, Google Scholar and Science Direct databases were searched for studies that investigated Ile49Ser and -482A>G in RO and PCOS. Using the metaanalytic approach, we estimated risk (odds ratio [OR] with 95% confidence intervals) using standard genetic models. Results: All calculated summary effects were non-significant. Overall associations of Ile49Ser and -482A>G with RO were absent (OR 0.95-0.99, P = 0.76-0.96) but implied increased risk in PCOS (OR 1.07-1.17, P = 0.49-0.55). Where heterogeneity of the pooled ORs were present, its sources were explored using the Galbraith plot. Detection and omission of the outlying studies in both polymorphisms not only erased heterogeneity of the recalculated pooled outcomes but also changed direction of association, where null effects turned to increased risk (Ile49Ser in RO) and increased risk became reduced risk (-482A>G in PCOS). Implications of the Ile49Ser and -482A>G, effects pointed to protection for Caucasians (OR 0.64-0.89, P = 0.36-0.73) in RO and increased risk in PCOS (OR 1.19-1.45, P = 0.28-0.65). Asian effects in RO and PCOS were variable (OR 0.97-1.24, P = 0.58-0.91). Conclusions: In summary, we found no evidence of significant associations of Ile49Ser and -482A>G with RO and PCOS, although contrasting Ile49Ser effects were implied among Caucasians between RO (up to 0.36% reduced risk) and PCOS (up to 1.5-fold increased risk).

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AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause

Cited by 29 publications

References 24 publications

There is a Positive Correlation Between Socioeconomic Status and Ovarian Reserve in Women of Reproductive Age

There is a Positive Correlation Between Socioeconomic Status and Ovarian Reserve in Women of Reproductive Age

A Novel Homozygous <b><i>AMRH2</i></b> Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome

Associations of Polymorphisms in Anti-Müllerian Hormone (AMH Ile49Ser) and its Type II Receptor (AMHRII -482 A>G) on Reproductive Outcomes and Polycystic Ovary Syndrome: a Systematic Review and Meta-Analysis

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