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Premature ovarian failure 9(POF9)

MedGen UID:
816706
Concept ID:
C3810376
Disease or Syndrome
Synonym: POF9
 
Gene (location): HFM1 (1p22.2)
 
Monarch Initiative: MONDO:0014322
OMIM®: 615724

Definition

Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years (summary by Wang et al., 2014). For a general phenotypic description and discussion of the genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Clinical features

From HPO
Amenorrhea
MedGen UID:
8016
Concept ID:
C0002453
Finding
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Premature ovarian insufficiency
MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Hypoplasia of the ovary
MedGen UID:
672766
Concept ID:
C0685840
Congenital Abnormality
Developmental hypoplasia of the ovary.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level
MedGen UID:
868698
Concept ID:
C4023101
Finding
An elevated concentration of luteinizing hormone in the blood.

Professional guidelines

PubMed

Esfandyari S, Chugh RM, Park HS, Hobeika E, Ulin M, Al-Hendy A
Cells 2020 Oct 8;9(10) doi: 10.3390/cells9102253. PMID: 33050021Free PMC Article
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
Barr RD
J Natl Cancer Inst 2014 Sep;106(9) Epub 2014 Aug 19 doi: 10.1093/jnci/dju231. PMID: 25139688

Recent clinical studies

Etiology

Hickey M, Basu P, Sassarini J, Stegmann ME, Weiderpass E, Nakawala Chilowa K, Yip CH, Partridge AH, Brennan DJ
Lancet 2024 Mar 9;403(10430):984-996. Epub 2024 Mar 5 doi: 10.1016/S0140-6736(23)02802-7. PMID: 38458217
Okoth K, Chandan JS, Marshall T, Thangaratinam S, Thomas GN, Nirantharakumar K, Adderley NJ
BMJ 2020 Oct 7;371:m3502. doi: 10.1136/bmj.m3502. PMID: 33028606Free PMC Article
Honigberg MC, Zekavat SM, Aragam K, Finneran P, Klarin D, Bhatt DL, Januzzi JL Jr, Scott NS, Natarajan P
JAMA 2019 Dec 24;322(24):2411-2421. doi: 10.1001/jama.2019.19191. PMID: 31738818Free PMC Article
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
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

Diagnosis

Hickey M, Basu P, Sassarini J, Stegmann ME, Weiderpass E, Nakawala Chilowa K, Yip CH, Partridge AH, Brennan DJ
Lancet 2024 Mar 9;403(10430):984-996. Epub 2024 Mar 5 doi: 10.1016/S0140-6736(23)02802-7. PMID: 38458217
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A
Nat Med 2023 Jul;29(7):1692-1699. Epub 2023 Jun 22 doi: 10.1038/s41591-023-02405-5. PMID: 37349538
Chen J, Fang Y, Xu Y, Sun H
Int J Biol Sci 2022;18(9):3592-3604. Epub 2022 May 16 doi: 10.7150/ijbs.69771. PMID: 35813486Free PMC Article
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
Aiman J, Smentek C
Obstet Gynecol 1985 Jul;66(1):9-14. PMID: 3925400

Therapy

Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
Su C, Zhang R, Zhang X, Lv M, Liu X, Ao K, Hao J, Mu YL
J Ethnopharmacol 2023 Oct 28;315:116703. Epub 2023 May 29 doi: 10.1016/j.jep.2023.116703. PMID: 37257704
Liu J, Yang Y, He Y, Feng C, Ou H, Yang J, Chen Y, You F, Shao B, Bao J, Guan X, Chen F, Zhao P
J Ethnopharmacol 2023 Mar 25;304:116046. Epub 2022 Dec 22 doi: 10.1016/j.jep.2022.116046. PMID: 36567042
Lo JO, Hedges JC, Girardi G
Am J Obstet Gynecol 2022 Oct;227(4):571-581. Epub 2022 May 31 doi: 10.1016/j.ajog.2022.05.056. PMID: 35662548Free PMC Article
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

Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
Szczuko M, Kikut J, Komorniak N, Bilicki J, Celewicz Z, Ziętek M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249628. PMID: 33348841Free PMC Article
Honigberg MC, Zekavat SM, Aragam K, Finneran P, Klarin D, Bhatt DL, Januzzi JL Jr, Scott NS, Natarajan P
JAMA 2019 Dec 24;322(24):2411-2421. doi: 10.1001/jama.2019.19191. PMID: 31738818Free PMC Article
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
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

Clinical prediction guides

Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
Su C, Zhang R, Zhang X, Lv M, Liu X, Ao K, Hao J, Mu YL
J Ethnopharmacol 2023 Oct 28;315:116703. Epub 2023 May 29 doi: 10.1016/j.jep.2023.116703. PMID: 37257704
Szczuko M, Kikut J, Komorniak N, Bilicki J, Celewicz Z, Ziętek M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249628. PMID: 33348841Free PMC Article
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
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

Ding W, Xu Y, Kondracki AJ, Sun Y
Am J Obstet Gynecol 2024 Mar;230(3):315-329.e31. Epub 2023 Oct 10 doi: 10.1016/j.ajog.2023.10.005. PMID: 37820985
Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
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
Okoth K, Chandan JS, Marshall T, Thangaratinam S, Thomas GN, Nirantharakumar K, Adderley NJ
BMJ 2020 Oct 7;371:m3502. doi: 10.1136/bmj.m3502. PMID: 33028606Free PMC Article
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

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