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Premature ovarian failure(POF)

MedGen UID:
38820
Concept ID:
C0085215
Disease or Syndrome
Synonyms: FRAGILE X PREMATURE OVARIAN FAILURE; POF; Primary ovarian insufficiency; PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED
SNOMED CT: Primary ovarian failure (65846009); Primary female hypogonadism (65846009); Female hypergonadotropic hypogonadism (65846009); Hypergonadotrophic ovarian failure (65846009); Premature ovarian failure (237788002); POF - Premature ovarian failure (237788002)
 
Related genes: FIGLA, NOBOX, POF1B, NR5A1, FMR1, DIAPH2, FOXL2
OMIM®: 311360

Definition

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 (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 (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), caused by mutation in the FOXL2 gene (605597) on chromosome 3q22; POF4 (see 300510), caused by mutation in the BMP15 gene (300247) on chromosome Xp11; POF5 (611548), caused by mutation in the NOBOX gene (610934) on chromosome 7q35; POF6 (612310), caused by mutation in the FIGLA gene (608697) on chromosome 2p13; POF7 (612964), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; POF8 (615723), caused by mutation in the STAG3 gene (608489) on chromosome 7q22; POF9 (615724), caused by mutation in the HFM1 gene (615684) on chromosome 1p22; POF10 (612885), caused by mutation in the MCM8 gene (608187) on chromosome 20p12; POF11 (616946), caused by mutation in the ERCC6 gene (609413) on chromosome 10q11; POF12 (616947), caused by mutation in the SYCE1 gene (611486) on chromosome 10q26; and POF13 (617442), caused by mutation in the MSH5 gene (603382) on chromosome 6p22. [from OMIM]

Recent clinical studies

Etiology

Eslami A, Farahmand K, Totonchi M, Madani T, Asadpour U, Zari Moradi S, Gourabi H, Mohseni-Meybodi A
Hum Fertil (Camb) 2017 Jun;20(2):120-125. Epub 2016 Nov 23 doi: 10.1080/14647273.2016.1255356. PMID: 27876427
Wang W, Zhao S, Zhuang L, Li W, Qin Y, Chen ZJ
Reprod Biomed Online 2015 Oct;31(4):573-6. Epub 2015 Jun 29 doi: 10.1016/j.rbmo.2015.06.012. PMID: 26190809
Gowri V, Al Shukri M, Al-Farsi FA, Al-Busaidi NA, Dennison D, Al Kindi S, Daar S, Al Farsi K, Pathare AV
Post Reprod Health 2015 Jun;21(2):63-8. Epub 2015 May 21 doi: 10.1177/2053369115587419. PMID: 25998044
Ye Y, Lan X, Cong J, Li N, Wu Y, Zhang M, Liu J, Cui Y, Wu BL, An Y, Wu J
Reprod Biomed Online 2014 Sep;29(3):382-7. Epub 2014 May 15 doi: 10.1016/j.rbmo.2014.05.004. PMID: 24912415
Wang H, Sun M, Qin Y, Xia T, Ma J, Chen ZJ
Reprod Biomed Online 2013 Feb;26(2):175-8. Epub 2012 Oct 23 doi: 10.1016/j.rbmo.2012.10.016. PMID: 23265958

Diagnosis

Aydin S, Ateş S, Arioğlu Aydin Ç, Batmaz G
J Sex Marital Ther 2017 May 19;43(4):354-360. Epub 2016 Mar 25 doi: 10.1080/0092623X.2016.1164783. PMID: 27015038
Akawatcharangura P, Taechakraichana N, Osiri M
Lupus 2016 Apr;25(4):436-44. Epub 2015 Nov 29 doi: 10.1177/0961203315617539. PMID: 26621134
Bouali N, Hmida D, Mougou S, Bouligand J, Lakhal B, Dimessi S, Francou B, Saad G, Trabelsi S, Zaouali M, Gribaa M, Chaieb M, Bibi M, Guiochon-Mantel A, Saad A
Ann Endocrinol (Paris) 2015 Dec;76(6):671-8. Epub 2015 Dec 1 doi: 10.1016/j.ando.2015.10.001. PMID: 26593861
Gowri V, Al Shukri M, Al-Farsi FA, Al-Busaidi NA, Dennison D, Al Kindi S, Daar S, Al Farsi K, Pathare AV
Post Reprod Health 2015 Jun;21(2):63-8. Epub 2015 May 21 doi: 10.1177/2053369115587419. PMID: 25998044
Feuerstein J
J Altern Complement Med 2010 Jul;16(7):807-9. doi: 10.1089/acm.2010.0022. PMID: 20618099

Therapy

Jang H, Hong K, Choi Y
Int J Mol Sci 2017 Jun 7;18(6) doi: 10.3390/ijms18061221. PMID: 28590419Free PMC Article
Lin J, Li XL, Song H, Li Q, Wang MY, Qiu XM, Li DJ, Wang L
Chin J Integr Med 2017 Feb;23(2):91-97. Epub 2017 Mar 7 doi: 10.1007/s11655-016-2642-7. PMID: 28265850
Kou MJ, Ding XF, Chen JX, Liu Y, Liu YY
Afr J Tradit Complement Altern Med 2016;13(5):160-169. Epub 2016 Aug 12 doi: 10.21010/ajtcam.v13i5.21. PMID: 28487907Free PMC Article
Song KK, Ma WW, Huang C, Ding JH, Cui DD, Tan XJ, Xiao J, Zhang MM
J Huazhong Univ Sci Technolog Med Sci 2016 Aug;36(4):571-5. Epub 2016 Jul 28 doi: 10.1007/s11596-016-1627-2. PMID: 27465335
Mayorga J, Alpízar-Rodríguez D, Prieto-Padilla J, Romero-Díaz J, Cravioto MC
Lupus 2016 Jun;25(7):675-83. Epub 2015 Dec 16 doi: 10.1177/0961203315622824. PMID: 26678443

Prognosis

Tšuiko O, Nõukas M, Žilina O, Hensen K, Tapanainen JS, Mägi R, Kals M, Kivistik PA, Haller-Kikkatalo K, Salumets A, Kurg A
Hum Reprod 2016 Aug;31(8):1913-25. Epub 2016 Jun 14 doi: 10.1093/humrep/dew142. PMID: 27301361Free PMC Article
Fonseca DJ, Patiño LC, Suárez YC, de Jesús Rodríguez A, Mateus HE, Jiménez KM, Ortega-Recalde O, Díaz-Yamal I, Laissue P
Fertil Steril 2015 Jul;104(1):154-62.e2. Epub 2015 May 16 doi: 10.1016/j.fertnstert.2015.04.016. PMID: 25989972
Haller-Kikkatalo K, Uibo R, Kurg A, Salumets A
Hum Reprod 2015 May;30(5):1229-38. Epub 2015 Feb 23 doi: 10.1093/humrep/dev021. PMID: 25712230
Wang JL, Li SL, Qin YY, Chen ZJ
Reprod Biomed Online 2014 Nov;29(5):640-3. Epub 2014 Aug 13 doi: 10.1016/j.rbmo.2014.08.001. PMID: 25246111
Qin Y, Jiao X, Dalgleish R, Vujovic S, Li J, Simpson JL, Al-Azzawi F, Chen ZJ
Fertil Steril 2014 Apr;101(4):1104-1109.e6. Epub 2014 Feb 10 doi: 10.1016/j.fertnstert.2014.01.001. PMID: 24524832

Clinical prediction guides

Kou MJ, Ding XF, Chen JX, Liu Y, Liu YY
Afr J Tradit Complement Altern Med 2016;13(5):160-169. Epub 2016 Aug 12 doi: 10.21010/ajtcam.v13i5.21. PMID: 28487907Free PMC Article
Lee Y, Kim C, Park Y, Pyun JA, Kwack K
Genomics 2016 Dec;108(5-6):209-215. Epub 2016 Oct 29 doi: 10.1016/j.ygeno.2016.10.006. PMID: 27989800
Tšuiko O, Nõukas M, Žilina O, Hensen K, Tapanainen JS, Mägi R, Kals M, Kivistik PA, Haller-Kikkatalo K, Salumets A, Kurg A
Hum Reprod 2016 Aug;31(8):1913-25. Epub 2016 Jun 14 doi: 10.1093/humrep/dew142. PMID: 27301361Free PMC Article
Akawatcharangura P, Taechakraichana N, Osiri M
Lupus 2016 Apr;25(4):436-44. Epub 2015 Nov 29 doi: 10.1177/0961203315617539. PMID: 26621134
Ye Y, Lan X, Cong J, Li N, Wu Y, Zhang M, Liu J, Cui Y, Wu BL, An Y, Wu J
Reprod Biomed Online 2014 Sep;29(3):382-7. Epub 2014 May 15 doi: 10.1016/j.rbmo.2014.05.004. PMID: 24912415

Recent systematic reviews

Kou MJ, Ding XF, Chen JX, Liu Y, Liu YY
Afr J Tradit Complement Altern Med 2016;13(5):160-169. Epub 2016 Aug 12 doi: 10.21010/ajtcam.v13i5.21. PMID: 28487907Free PMC Article
Gowri V, Al Shukri M, Al-Farsi FA, Al-Busaidi NA, Dennison D, Al Kindi S, Daar S, Al Farsi K, Pathare AV
Post Reprod Health 2015 Jun;21(2):63-8. Epub 2015 May 21 doi: 10.1177/2053369115587419. PMID: 25998044
He M, Shu J, Huang X, Tang H
J Assist Reprod Genet 2015 Feb;32(2):297-304. Epub 2014 Nov 27 doi: 10.1007/s10815-014-0393-y. PMID: 25428437Free PMC Article
Pu D, Xing Y, Gao Y, Gu L, Wu J
Eur J Obstet Gynecol Reprod Biol 2014 Nov;182:226-37. Epub 2014 Oct 6 doi: 10.1016/j.ejogrb.2014.09.036. PMID: 25445105
Tosh D, Rao KL, Rani HS, Deenadayal DA, Murty US, Grover P
Arch Gynecol Obstet 2014 Jun;289(6):1255-62. Epub 2014 Jan 23 doi: 10.1007/s00404-014-3145-4. PMID: 24452737

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