Genes governing premature ovarian failure

Dixit, Hridesh; Rao, Lakshmi; Padmalatha, Venkata; Raseswari, Turlapati; Kapu, Anil Kumar; Panda, Bineet; Kanakavalli, Murthy; Tosh, D.; Nallari, Pratibha; Deenadayal, Mamata; Gupta, Nalini; Chakrabarthy, Baidyanath; Singh, Lalji

doi:10.1016/j.rbmo.2010.02.018

Cited by 60 publications

(43 citation statements)

References 108 publications

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“…The PGRMC1 (Progesterone Receptor Membrane Protein 1) gene encodes a progesterone-binding protein and is also considered a candidate for POI [36], since its expression alters in women with different forms of infertility. Therefore, it appears to play a role in regulating follicular development.…”

Section: Mutations In Genes On the X Chromosomementioning

confidence: 99%

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: Mutations In Genes On the X Chromosomementioning

confidence: 99%

Genetics of primary ovarian insufficiency: a review

Fortuño

Labarta

2014

J Assist Reprod Genet

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“…Generally, these aberrations may impair meiosis through reduced gene dosage and non-specific chromosome effects, therefore decrease the reserves of primordial follicles, and accelerate atresia of follicles [15]. Involved genes have various biological functions including regulation of the hypothalamic-pituitaryovarian (HPO) axis, regulation of oogenesis, coordination of development of germ cell to primordial stage (GDF9, BMP15 and NGF), regulation of development of further stages (FSH and LH), and participation in systemic endocrinal functions [25,26].…”

Section: Genetic Causesmentioning

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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“…Desde el punto de vista clínico, la IOP puede dividirse en formas esporádicas (la gran mayoría de los casos) y formas familiares, donde el riesgo de recurrencia ha sido estimado hasta en un 33%, lo que confirma que la IOP es un padecimiento hereditario (9,10). En relación a los casos esporá-dicos, se ha reportado que alrededor del 50% de las pacientes podrían recuperar la función ovárica aún después del diagnóstico, lo que ha generado embarazos no esperados en un 5-15% (11,12).…”

Section: Clasificaciónunclassified

“…En relación a la participación de genes autosómicos, se ha descrito que la región 5q14.1-q15 contiene genes expresados en el ovario y que podrían tener participación en IOP (22); sin embargo, aunque sólo se ha asociado un pequeño número de mutaciones a IOP (FMR1, FMR2, AIRE, FSHR, LHR, GALT1, BMP15, FOXL2, EIF2B, NOGGIN, POLG e INHA), aún existen una gran cantidad de genes candidatos (DIAPH2, DFFRX, WT1, 2FX, ATM, XIST) localizados en las regiones críticas para IOP o que intervienen en alguna etapa de desarrollo del folículo, ya sea desde la formación de folículos primordiales, hasta llegar a ser folículos preovulatorios, que podrían ser analizados para dar explicación a los casos en los cuales no se ha identificado una causa en particular (idiopáticos) (8,9,29,33). En la Tabla I se presenta una lista de los genes candidatos que mayor participación tienen en la etiología de IOP.…”

Section: Etiologíaunclassified

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Insuficiencia ovárica prematura: una revisión

O³

2012

Rev. chil. obstet. ginecol.

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a Bióloga. b Químico Fármaco-Biólogo. c Médico. RESUMENLa insuficiencia ovárica prematura se caracteriza por amenorrea primaria o secundaria, hipoestrogenismo y niveles elevados de FSH (hormona folículo estimulante), que afecta a 1 de cada 100 mujeres menores de 40 años. Su etiología es multifactorial. Sólo en algunas pacientes se puede establecer una causa en particular, entre ellas: metabólicas, ambientales, autoinmunes, genéticas y iatrogénicas; siendo idiopáticos alrededor del 90% de los casos. Dentro de las causas genéticas se pueden considerar las alteraciones del cromosoma X y mutaciones en genes candidatos que regulan el desarrollo folicular. El tratamiento debe ser multidisciplinario, enfocado particularmente a la terapia de reemplazo hormonal y prevención de complicaciones. El asesoramiento genético es importante para que se tomen decisiones oportunas, sobre todo en aquellas pacientes que aún tienen la posibilidad de lograr un embarazo.PALABRAS CLAVE: Insuficiencia ovárica prematura, genes candidatos, amenorrea SUMMARYPremature ovarian insufficiency is characterized by primary or secondary amenorrhea, hypoestrogenism and elevated levels of FSH (follicle stimulating hormone), which affects 1 in 100 women under 40 years. Its etiology is multifactorial, however, only in some patients can be set a particular cause, including: metabolic, environmental, autoimmune, genetic and iatrogenic, being idiopathic more than 90% of the cases. Some of the genetic causes that can be seen are the X chromosome alterations and mutations in candidate genes that regulate follicular development. Treatment should be multidisciplinary, focusing particularly on hormone replacement therapy and prevention of complications of early menopause. Genetic counseling is important for to make timely decisions, particularly in those patients who still have a chance to get a pregnancy. KEY WORDS: Premature ovarian insufficiency, candidate genes, amenorrhea INTRODUCCIÓNLa insuficiencia ovárica prematura (IOP) también conocida como falla ovárica prematura o menopausia prematura, se define como el cese de la ovulación y las funciones ováricas endocrinas en mujeres menores de 40 años. El término fue propuesto por primera vez en 1942 por Fuller Albright, quién es considerado el padre de la endocrinología (1,2).

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Genes governing premature ovarian failure

Cited by 60 publications

References 108 publications

Genetics of primary ovarian insufficiency: a review

Genetics of primary ovarian insufficiency: a review

An update on primary ovarian insufficiency

Insuficiencia ovárica prematura: una revisión

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