U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Premature ovarian failure 20(POF20)

MedGen UID:
1808256
•Concept ID:
C5677011
•
Disease or Syndrome
Synonym: POF20
 
Gene (location): MSH4 (1p31.1)
 
Monarch Initiative: MONDO:0030975
OMIM®: 619938

Definition

Premature ovarian failure-20 (POF20) is characterized by female infertility due to secondary amenorrhea. Some patients exhibit atrophic ovaries lacking follicles (Carlosama et al., 2017; Akbari et al., 2021; Wyrwoll et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of POF, see POF1 (311360). [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
Secondary amenorrhea
MedGen UID:
115919
•Concept ID:
C0232940
•
Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
See: Feature record | Search on this feature
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
•Concept ID:
C4021550
•
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
See: Feature record | Search on this feature
Elevated circulating luteinizing hormone level
MedGen UID:
868698
•Concept ID:
C4023101
•
Finding
An elevated concentration of luteinizing hormone in the blood.
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Christin-Maitre S, Givony M, Albarel F, Bachelot A, Bidet M, Blanc JV, Bouvattier C, Brac de la Perrière A, Catteau-Jonard S, Chevalier N, Carel JC, Coutant R, Donadille B, Duranteau L, El-Khattabi L, Hugon-Rodin J, Houang M, Grynberg M, Kerlan V, Leger J, Misrahi M, Pienkowski C, Plu-Bureau G, Polak M, Reynaud R, Siffroi JP, Sonigo C, Touraine P, Zenaty D
Ann Endocrinol (Paris) 2021 Dec;82(6):555-571. Epub 2021 Sep 8 doi: 10.1016/j.ando.2021.09.001. PMID: 34508691
Ovarian Rejuvenation Through Platelet-Rich Autologous Plasma (PRP)-a Chance to Have a Baby Without Donor Eggs, Improving the Life Quality of Women Suffering from Early Menopause Without Synthetic Hormonal Treatment.
Petryk N, Petryk M
Reprod Sci 2020 Nov;27(11):1975-1982. Epub 2020 Jul 22 doi: 10.1007/s43032-020-00266-8. PMID: 32700285
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Recent clinical studies

Etiology

Managing Atherosclerotic Cardiovascular Risk in Young Adults: JACC State-of-the-Art Review.
Stone NJ, Smith SC Jr, Orringer CE, Rigotti NA, Navar AM, Khan SS, Jones DW, Goldberg R, Mora S, Blaha M, Pencina MJ, Grundy SM
J Am Coll Cardiol 2022 Mar 1;79(8):819-836. doi: 10.1016/j.jacc.2021.12.016. PMID: 35210038
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Diagnosis

Managing Atherosclerotic Cardiovascular Risk in Young Adults: JACC State-of-the-Art Review.
Stone NJ, Smith SC Jr, Orringer CE, Rigotti NA, Navar AM, Khan SS, Jones DW, Goldberg R, Mora S, Blaha M, Pencina MJ, Grundy SM
J Am Coll Cardiol 2022 Mar 1;79(8):819-836. doi: 10.1016/j.jacc.2021.12.016. PMID: 35210038
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Triple X syndrome: a review of the literature.
Otter M, Schrander-Stumpel CT, Curfs LM
Eur J Hum Genet 2010 Mar;18(3):265-71. Epub 2009 Jul 1 doi: 10.1038/ejhg.2009.109. PMID: 19568271Free PMC Article

Therapy

Alpha-ketoglutarate ameliorates induced premature ovarian insufficiency in rats by inhibiting apoptosis and upregulating glycolysis.
Li T, Liu J, Liu K, Wang Q, Cao J, Xiao P, Yang W, Li X, Li J, Li M, Tang X, Li M, Zhang S, Lei X
Reprod Biomed Online 2023 Apr;46(4):673-685. Epub 2023 Jan 26 doi: 10.1016/j.rbmo.2023.01.005. PMID: 36894359
Jian-Pi-Yi-Shen decoction inhibits mitochondria-dependent granulosa cell apoptosis in a rat model of POF.
Jiang XL, Tai H, Kuang JS, Zhang JY, Cui SC, Lu YX, Qi SB, Zhang SY, Li SM, Chen JP, Meng XS
Aging (Albany NY) 2022 Oct 27;14(20):8321-8345. doi: 10.18632/aging.204320. PMID: 36309912Free PMC Article
Hormone therapy for uterine and endometrial development in women with premature ovarian insufficiency.
Craciunas L, Zdoukopoulos N, Vinayagam S, Mohiyiddeen L
Cochrane Database Syst Rev 2022 Oct 6;10(10):CD008209. doi: 10.1002/14651858.CD008209.pub2. PMID: 36200708Free PMC Article
Genetics in human reproduction.
Rodrigues VO, Polisseni F, Pannain GD, Carvalho MAG
JBRA Assist Reprod 2020 Oct 6;24(4):480-491. doi: 10.5935/1518-0557.20200007. PMID: 32293822Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Prognosis

Managing Atherosclerotic Cardiovascular Risk in Young Adults: JACC State-of-the-Art Review.
Stone NJ, Smith SC Jr, Orringer CE, Rigotti NA, Navar AM, Khan SS, Jones DW, Goldberg R, Mora S, Blaha M, Pencina MJ, Grundy SM
J Am Coll Cardiol 2022 Mar 1;79(8):819-836. doi: 10.1016/j.jacc.2021.12.016. PMID: 35210038
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Clinical prediction guides

Managing Atherosclerotic Cardiovascular Risk in Young Adults: JACC State-of-the-Art Review.
Stone NJ, Smith SC Jr, Orringer CE, Rigotti NA, Navar AM, Khan SS, Jones DW, Goldberg R, Mora S, Blaha M, Pencina MJ, Grundy SM
J Am Coll Cardiol 2022 Mar 1;79(8):819-836. doi: 10.1016/j.jacc.2021.12.016. PMID: 35210038
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free PMC Article

Recent systematic reviews

Early menopause and premature ovarian insufficiency are associated with increased risk of dementia: A systematic review and meta-analysis of observational studies.
Karamitrou EK, Anagnostis P, Vaitsi K, Athanasiadis L, Goulis DG
Maturitas 2023 Oct;176:107792. Epub 2023 Jun 23 doi: 10.1016/j.maturitas.2023.107792. PMID: 37393661
Early menopause and premature ovarian insufficiency may increase the risk of sarcopenia: A systematic review and meta-analysis.
Divaris E, Anagnostis P, Gkekas NK, Kouidi E, Goulis DG
Maturitas 2023 Sep;175:107782. Epub 2023 Jun 7 doi: 10.1016/j.maturitas.2023.05.006. PMID: 37331156
The global prevalence of premature ovarian insufficiency: a systematic review and meta-analysis.
Li M, Zhu Y, Wei J, Chen L, Chen S, Lai D
Climacteric 2023 Apr;26(2):95-102. Epub 2022 Dec 15 doi: 10.1080/13697137.2022.2153033. PMID: 36519275
Fresh and cryopreserved ovarian tissue transplantation for preserving reproductive and endocrine function: a systematic review and individual patient data meta-analysis.
Khattak H, Malhas R, Craciunas L, Afifi Y, Amorim CA, Fishel S, Silber S, Gook D, Demeestere I, Bystrova O, Lisyanskaya A, Manikhas G, Lotz L, Dittrich R, Colmorn LB, Macklon KT, Hjorth IMD, Kristensen SG, Gallos I, Coomarasamy A
Hum Reprod Update 2022 May 2;28(3):400-416. doi: 10.1093/humupd/dmac003. PMID: 35199164Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...