Genetic aspects of premature ovarian failure: a literature review

Cordts, Emerson Barchi; Christofolini, Denise Maria; Santos, Aline Amaro dos; Bianco, Bianca; Barbosa, Caio Parente

doi:10.1007/s00404-010-1815-4

Cited by 148 publications

(102 citation statements)

References 74 publications

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“…In short, the most commonly known genetic causes of POI are X chromosome abnormalities (13 % of cases) [9], especially Turner syndrome, and FMR1 premutations (3-15 % of cases) [26]. Then, when a woman is diagnosed with POI, in the absence of other more obvious causes, it should be carried out a cytogenetic analysis, although there is also an important immune factor that could be rule out with the detection of autoantibodies.…”

Section: Discussionmentioning

confidence: 99%

“…Aneuploidies X chromosome abnormalities, namely aneuploidies and rearrangements, represent about 13 % of POI cases [9], which makes them one of the commonest genetic causes. Amongst them we highlight Turner syndrome or monosomy X (45,X), in which most women present gonadal dysgenesis with primary amenorrhea, loss of ovarian reserve before puberty, as oocytes need two active X chromosomes.…”

Section: Sex Chromosome Abnormalitiesmentioning

confidence: 99%

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Genetics of primary ovarian insufficiency: a review

Fortuño

Labarta

2014

J Assist Reprod Genet

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Primary ovarian insufficiency is one of the main causes of female infertility owing to an abnormal ovarian reserve. Its relevance has increased in more recent years due to the fact that age of motherhood is being delayed in developed countries, with the risk of having either primary ovarian insufficiency or less chances of pregnancy when women consider the option of having their first baby. Several exogenous factors can lead to this event, such us viral infections, metabolomic dysfunction, autoimmune diseases, and environmental or iatrogenic factors, although in most cases the mechanism that leads to the disorder is unknown. Genetic factors represent the most commonly identified cause and the impact of sex chromosome abnormalities (e.g., Turner syndrome or X structural abnormalities), autosomal and X-linked mutations on the genesis of primary ovarian insufficiency has also been well described. Yet in most cases, the genetic origin remains unknown and there are multiple candidate genes. This review aims to collect all the genetic abnormalities and genes associated with syndromic and non syndromic primary ovarian insufficiency that have been published in the literature to date using the candidate-gene approach and a genome-wide analysis.

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Section: Discussionmentioning

confidence: 99%

Section: Sex Chromosome Abnormalitiesmentioning

confidence: 99%

Genetics of primary ovarian insufficiency: a review

Fortuño

Labarta

2014

J Assist Reprod Genet

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“…Its targets include genes at every level of the HPG axis, as well as many genes involved in gonadal and adrenal steroidogenesis (Jamesson 2004). Mice with granulosa cell-specific conditional knockout of SF1 are sterile and have fewer follicles, a lack of corpora lutea, and hemorrhagic cysts (Cordts et al 2011). These characteristics indicate the important role of SF1 in the development of ovaries, which directly determines the proper functioning of this structure.…”

Section: Discussionmentioning

confidence: 99%

The influence of adiponectin on the transcriptomic profile of porcine luteal cells

Szeszko

Smolińska

Kieżun

et al. 2015

Funct Integr Genomics

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Reproductive functions are closely related to nutritional status. Recent studies suggest that adiponectin may be a hormonal link between them. Adiponectin is an adipocytokine, abundantly expressed in adipose tissues. It plays a dominant role in lipid and carbohydrate metabolism by stimulating fatty acid oxidation, decreasing plasma triglycerides, and increasing cells' sensitivity to insulin and has direct antiatherosclerotic effects. The hormone is also postulated to play a modulatory role in the regulation of the reproductive system. The aim of this study was to identify differentially expressed genes (DE-genes) in response to adiponectin treatment of porcine luteal ovarian cells. The global expression of genes in the porcine ovary was investigated using the Porcine (V2) Two-color gene expression microarray, 4 × 44 (Agilent, USA). Analysis of the microarray data showed that 701 genes were differentially expressed and 389 genes showed a fold change greater than 1.2 (p < 0.05). Among this number, 186 genes were up-regulated and 203 were down-regulated. The list of DE-genes was used for gene ontology analyses. The biological process list was generated from up-regulated and down-regulated DE-genes. We found that up-regulated products of DE-genes take part in 30 biological processes and down-regulated products in 9. Analysis of the interaction network among DE-genes showed that adiponectin interacts with genes involved in important processes in luteal cells. These results provide a basis for future work describing the detailed interactions and relationships explaining local regulation of adiponectin actions in the ovary of pigs.

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“…Apart from the above genes, other genes involved, or potentially involved in POI in women include: fragile mental retardation 2 (FMR2), newborn ovary homeobox protein (NOBOX), factor in the germline-α (FIGLα), forkhead box O3 (FOXO3), estrogen receptor-α (ERα), estrogen receptor-β (ERβ), splicing factor 1 (SF1, NR5A1) [15,39,73,74]. Further studies are required before their use in genetic diagnosis for POI.…”

Section: Autosomal Poi Genesmentioning

confidence: 99%

An update on primary ovarian insufficiency

Jin

Huang

2012

Sci. China Life Sci.

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Primary ovarian insufficiency (POI) occurs in about 1% of female population under the age of 40, leading to reproductive problems, an earlier encounter with menopausal symptoms, and complicated diseases. There are three presumable mechanisms involved in the development of POI, namely apoptosis acceleration, follicular maturation blocking and premature follicle activation, through the following studied causes: (i) chromosomal abnormalities or gene mutations: mostly involve X chromosome, such as FMR1 premutation; more and more potentially causal genes have been screened recently; (ii) metabolic disorders such as classic galactosaemia and 17-OH deficiency; (iii) autoimmune mediated ovarian damage: observed alone or with some certain autoimmune disorders and syndromes; but the specificity and sensitivity of antibodies towards ovary are still questionable; (iv) iatrogenic: radiotherapy or chemotherapy used in cancer treatment, as well as pelvic surgery with potential threat to ovaries' blood supply can directly damage ovarian function; (v) virus infection such as HIV and mumps; (vi) toxins and other environmental/lifestyle factors: cigarette smoking, toxins (e.g., 4-vinylcyclohexene diepoxide), and other environmental factors are associated with the development of POI. The etiology of a majority of POI cases is not identified, and is believed to be multifactorial. Strategies to POI include hormone replacement and infertility treatment. Assisted conception with donated oocytes has been proven to achieve pregnancy in POI women. Embryo cryopreservation, ovarian tissue cryopreservation and oocyte cryopreservation have been used to preserve ovarian reserve in women undergoing cancer treatments. Primary ovarian insufficiency (POI), commonly referred to as premature ovarian failure (POF), is defined as the occurrence of amenorrhea (for 4 months or more) before the age of 40 in women, accompanied with an increase of serum FSH to menopausal level (usually over 40 IU L 1 , obtained at least 1 month apart), and estradiol levels less than 50 pg mL 1 (which indicate hypoestrogenism) [1]. Primary ovarian insufficiency is first brought to light by Fuller Albright in 1942, who emphasized that the end stage of ovarian function is the primary defect rather than abnormality in gonadotropin secretion [2], and avoided the discomforting and inaccurate stressing on "failure", like death-sentence for ovarian function and conception.Menopause is a destined phase of women, which is expected to occur at around the age of (50±4) years in US women [3]. The age of 40 is two standard deviations below this average [4]. With an incidence of 1% in women under the age of 40, and 0.1% in women under the age of 30 [5], POI renders patients estrogen deficiency and anovulation, resulting in vasomotor symptoms (hot flashes and night sweats), atrophic vaginitis, dyspareunia, primary or secondary amenorrhea, and infertility. 76% of POI cases developed after normal puberty and establishment of regular menses [6]. Some of such conditions occur after stopping...

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Genetic aspects of premature ovarian failure: a literature review

Cited by 148 publications

References 74 publications

Genetics of primary ovarian insufficiency: a review

Genetics of primary ovarian insufficiency: a review

The influence of adiponectin on the transcriptomic profile of porcine luteal cells

An update on primary ovarian insufficiency

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