premature ovarian failure

Common Name(s)

premature ovarian failure

Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years ({3:Coulam, 1982}). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation ({2:Bione et al., 1998}). Genetic Heterogeneity of Premature Ovarian Failure Mutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A ({300511}) by mutation in the DIAPH2 gene ({300108}) and POF2B ({300604}) by mutation in the POF1B gene ({300603}). See also POF3 ({608996}), which is caused by mutation in the FOXL2 gene ({605597}) on chromosome 3q22; POF4 (see {300510}), which is caused by mutation in the BMP15 gene ({300247}) on chromosome Xp11; POF5 ({611548}), which is caused by mutation in the NOBOX gene ({610934}) on chromosome 7q35; POF6 ({612310}), which is caused by mutation in the FIGLA gene ({608697}) on chromosome 2p13; POF7 ({612964}), which is caused by mutation in the NR5A1 gene ({184757}) on chromosome 9q33; POF8 ({615273}), which is caused by mutation in the STAG3 gene ({608489}) on chromosome 7q22; and POF9 ({615724}), which is caused by mutation in the HFM1 gene ({615684}) on chromosome 1p22.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "premature ovarian failure" for support, advocacy or research.

International Premature Ovarian Failure Association, Inc.

Our mission is to provide community, support, and information to women with POF and their loved ones, to increase public awareness and understanding of POF, and to work with HCP to better understand this condition.

Last Updated: 20 Jul 2010

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Rachel's Well

Rachel's Well in an innovative, multi-disciplinary non-profit organization committed to increaseing women's health research and education, particularly around the issues of menstrual health and primary ovarian insufficiency (POI).

Last Updated: 5 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "premature ovarian failure" for support, advocacy or research.

International Premature Ovarian Failure Association, Inc.

Our mission is to provide community, support, and information to women with POF and their loved ones, to increase public awareness and understanding of POF, and to work with HCP to better understand this condition.

http://www.ipofa.org

Last Updated: 20 Jul 2010

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Rachel's Well

Rachel's Well in an innovative, multi-disciplinary non-profit organization committed to increaseing women's health research and education, particularly around the issues of menstrual health and primary ovarian insufficiency (POI).

http://www.rachelswell.org/

Last Updated: 5 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "premature ovarian failure" returned 134 free, full-text research articles on human participants. First 3 results:

Mutant cohesin in premature ovarian failure.
 

Author(s): Sandrine Caburet, Valerie A Arboleda, Elena Llano, Paul A Overbeek, Jose Luis Barbero, Kazuhiro Oka, Wilbur Harrison, Daniel Vaiman, Ziva Ben-Neriah, Ignacio García-Tuñón, Marc Fellous, Alberto M Pendás, Reiner A Veitia, Eric Vilain

Journal: N. Engl. J. Med.. 2014 Mar;370(10):943-9.

 

Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure, we identified a homozygous 1-bp deletion ...

Last Updated: 6 Mar 2014

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Human amniotic epithelial cells can differentiate into granulosa cells and restore folliculogenesis in a mouse model of chemotherapy-induced premature ovarian failure.
 

Author(s): Fangyuan Wang, Li Wang, Xiaofen Yao, Dongmei Lai, Lihe Guo

Journal:

 

Ovarian dysfunction frequently occurs in female cancer patients after chemotherapy, but human amniotic epithelial cells (hAECs) that can differentiate into cell types that arise from all three germ layers may offer promise for restoration of such dysfunction. Previous studies confirmed ...

Last Updated: 10 Jan 2014

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The unusual association of Graves' disease, chronic spontaneous urticaria, and premature ovarian failure: report of a case and HLA haplotype characterization.
 

Author(s): Rosaria Maddalena Ruggeri, Giuseppe Vita, Anna Grazia D'Angelo, Paolina Quattrocchi, Rosaria Certo, Salvatore Benvenga, Salvatore Cannavò, Sebastiano Gangemi

Journal: Arq Bras Endocrinol Metabol. 2013 Dec;57(9):748-52.

 

Chronic spontaneous urticaria (CSU), defined as the occurrence of spontaneous wheals for more than six weeks, has been associated with autoimmune diseases. Herein, we report the unusual association of CSU, Graves' disease, and premature ovarian failure. Human leukocyte antigen (HLA) ...

Last Updated: 9 Jan 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "premature ovarian failure" returned 15 free, full-text review articles on human participants. First 3 results:

ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure.
 

Author(s): Yingying Qin, Mei Sun, Li You, Deying Wei, Jielin Sun, Xiaoyan Liang, Bo Zhang, Hong Jiang, Jianfeng Xu, Zi-Jiang Chen

Journal:

 

Premature ovarian failure (POF) is a complex and heterogeneous disorder that is influenced by multiple genetic components. Numerous candidate gene studies designed to identify POF susceptibility loci have been published, but most positive findings have not been confirmed in follow ...

Last Updated: 9 Feb 2012

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Premature ovarian failure.
 

Author(s): Andrew N Shelling

Journal: Reproduction. 2010 Nov;140(5):633-41.

 

Premature ovarian failure (POF) is a common cause of infertility in women, and is characterised by amenorrhoea, hypo-oestrogenism and elevated gonadotrophin levels in women under the age of 40. Known causes include iatrogenic agents that cause permanent damage to the ovaries, such ...

Last Updated: 25 Oct 2010

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Genes involved in human premature ovarian failure.
 

Author(s): Luca Persani, Raffaella Rossetti, Chiara Cacciatore

Journal: J. Mol. Endocrinol.. 2010 Nov;45(5):257-79.

 

Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40 years, representing one major cause of female infertility. POF relevance is continuously growing because women tend to conceive ever more frequently ...

Last Updated: 21 Oct 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Premature Ovarian Failure (Genetic and Physiopathologic Analysis)
 

Status: Recruiting

Condition Summary: Premature Ovarian Failure

 

Last Updated: 27 Oct 2008

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Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
 

Status: Recruiting

Condition Summary: Premature Ovarian Failure

 

Last Updated: 12 May 2014

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Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure
 

Status: Recruiting

Condition Summary: Premature Ovarian Failure,

 

Last Updated: 2 Dec 2012

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