Inhibin and premature ovarian failure

Chand, Ashwini L.; Harrison, Craig A.; Shelling, Andrew N.

doi:10.1093/humupd/dmp031

Cited by 96 publications

(58 citation statements)

References 94 publications

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“…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. Other possible genetic causes of POI isolated are mutations in FMR2 (1.5 % of cases) [35], PGRMC1 and BMP15 genes on the X chromosome (1.5-12 % of cases) [21], and NR5A1, FOXL2, INHA (4.5-10.5 % of New Zealand, Indian and Italian patients) [57], GDF9, NOBOX (5.2 % of French patients) [59], NANOS3 and FIGLα genes in autosomes, although their degree of association depends on the study population. Mutations in all the other genes mentioned in this review are population-specific, not common or rare causes.…”

Section: Discussionmentioning

confidence: 99%

“…Based on its function, it is considered a strong candidate and its mutation was present in 7 % of 38 New Zealand patients, 10.5 % of 133 Indian patients and 4.5 % of 157 Italian patients [57]. Yet it is more likely to be a susceptibility factor to POI rather than the single genetic cause.…”

Section: Mutations In Autosomal Genesmentioning

confidence: 99%

“…Alperssyndrome, status epilepticus PMM1 [54] 22q13.2 congenital disorder of glycosylation type 1A, anoxia BMPR1B [55] 4q22-q24 Chrondrodisplasya, acromesomelic, with genital anomalies GJA1 [56] 1p34.3 Erythrokeratodermia variabilis, myocardial infarction INHA [57] 2q33-q36 Sertolicell tumor, multi-drugresistant tuberculosis GDF9 [10] 5q23.2 Polycysticovarysyndrome, blepharophimosis TGFBR3 [58] 1p33-p32,1 Eisenmengersyndrome, priapism NOBOX [59] 7q35 Oophoritis NANOS3 [10] 19p13.13 Seminoma FIGLα [60] 2p13.3 − FOXO1 [61] 13q14.1 Alveolarrhabdomyosarcoma FOXO3 [61] 6p21 Rhabdomyosarcoma, acuteleukemia ESR1 [62,63] 6p35 Estrogen resistance syndrome, uterine disease WT1 [64] 11p13 Wilms tumor, Denys-Drash syndrome PTEN [65] 10q23.31 Endometrial carcinoma, Cowden disease CDKN1B [66] 12p13.1 Mature T-cell and Nk-cell neoplasm, blasticplasmacytoid dendritic cell CITED2 [67] 6q24.1 Single ventricular septaldefect, atrial septal defect sinusvenosus SF1 [68] 11q13.1 Familial isolated pituitary adenoma, Wermer syndrome WNT4 [69] 1p36.12 Eaf, Serkal syndrome DMC1 [70] 22q13.1 Keratoderma, pterygium MSH5 [70] 6p21.3 Common variable immunodeficiency, immnoglobulin alpha deficiency DAZL [3] 3p24.3 Azoospermia, infertility EIF5B [3] 2q11.2 Von Hippel-Lindaudisease, glucoseinterolerance YBX2 [3] 17p13.1 Azoospermia, germ cell tumors BAX [3] 19q13.33 Malignant teratoma, ovary adenocarcinoma SOHLH1 [3] 9q34.3 Azoospermia addition to POI. Table 3 also shows other genes associated with POI (DAZL, EIF5B, YBX2) and the pathways of apoptosis in ovary or ovarian follicular dysfunction (BAX, SOHLH1) [3], which do not abound in the literature.…”

Section: Genementioning

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: Mutations In Autosomal Genesmentioning

confidence: 99%

Section: Genementioning

confidence: 99%

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Genetics of primary ovarian insufficiency: a review

Fortuño

Labarta

2014

J Assist Reprod Genet

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“…However, various clinical and laboratory trials [14] have recently underlined that also the valuation of these peptides is not able to certainly anticipate future decline of ovarian reserve, as, similarly to what has been shown in FSH and E2 levels, the modification of Müllerian inhibitory factor levels and, specially, of Inhibin B is associated with an already concomitant and inexorable reduction of the ovarian reserve [15].…”

Section: Discussionmentioning

confidence: 99%

Genetics pathogenesis in the ovarian insufficiency

Ciotta¹,

Pagano²,

Leanza³

et al. 2012

OJPM

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“…There is a strong association between POI and variants in the inhibin-α subunit gene (IHNA) (e.g., G769A missense mutation) in female population in India and New Zealand [66,67]. The INHA G769A mutation, with prevalence from 011% in different population [15], results in normal production of dimeric inhibin A and B, but impaired bioactivity of inhibin B, which may be related to POI development [66]. Low serum inhibin B level has been reported to have association with reproductive aging, diminished ovarian reserve, and POI [6870].…”

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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Inhibin and premature ovarian failure

Cited by 96 publications

References 94 publications

Genetics of primary ovarian insufficiency: a review

Genetics of primary ovarian insufficiency: a review

Genetics pathogenesis in the ovarian insufficiency

An update on primary ovarian insufficiency

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