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Premature ovarian failure 17(POF17)

MedGen UID:
1748767
Concept ID:
C5436889
Disease or Syndrome
Synonyms: POF17; PREMATURE OVARIAN FAILURE 17
 
Gene (location): XRCC2 (7q36.1)
 
Monarch Initiative: MONDO:0030870
OMIM®: 619146

Definition

Premature ovarian failure-17 (POF17) is characterized by early cessation of menses after initial menarche, with small ovaries and uterus (Zhang et al., 2019). For a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Clinical features

From HPO
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.
Decreased serum estradiol
MedGen UID:
69129
Concept ID:
C0241011
Finding
A reduction below normal concentration of estradiol in the circulation.
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.
Decreased circulating inhibin B concentration
MedGen UID:
1392759
Concept ID:
C4476969
Finding
The concentration of inhibin B in the blood circulation is below the lower limit of normal.
Decreased cirrculating antimullerian hormone circulation
MedGen UID:
1391876
Concept ID:
C4476972
Finding
A reduction below the normal range of the antimullerian hormone in the circulation.

Professional guidelines

PubMed

Salman L, Covens A
Curr Oncol 2024 Jan 4;31(1):296-306. doi: 10.3390/curroncol31010019. PMID: 38248104Free PMC Article
Cui J, Wang Y
J Ovarian Res 2024 Jan 9;17(1):8. doi: 10.1186/s13048-023-01330-y. PMID: 38191456Free PMC Article
Lambertini M, Poggio F, Vaglica M, Blondeaux E, Del Mastro L
Expert Opin Pharmacother 2016 Aug;17(12):1643-55. Epub 2016 Jun 20 doi: 10.1080/14656566.2016.1199685. PMID: 27322484

Recent clinical studies

Etiology

Yi Y, Fu J, Xie S, Zhang Q, Xu B, Wang Y, Wang Y, Li B, Zhao G, Li J, Li Y, Zhao J
Hum Reprod 2023 Nov 2;38(11):2247-2258. doi: 10.1093/humrep/dead180. PMID: 37713654
Zhang C, Yu D, Mei Y, Liu S, Shao H, Sun Q, Lu Q, Hu J, Gu H
Front Endocrinol (Lausanne) 2023;14:1129657. Epub 2023 May 8 doi: 10.3389/fendo.2023.1129657. PMID: 37223018Free PMC Article
Lambertini M, Boni L, Michelotti A, Magnolfi E, Cogoni AA, Mosconi AM, Giordano M, Garrone O, Arpino G, Poggio F, Cinacchi P, Bighin C, Fregatti P, Pronzato P, Blondeaux E, Del Mastro L; GIM study group
J Natl Cancer Inst 2022 Mar 8;114(3):400-408. doi: 10.1093/jnci/djab213. PMID: 34850043Free PMC Article
Tsiligiannis S, Panay N, Stevenson JC
Curr Vasc Pharmacol 2019;17(6):604-609. doi: 10.2174/1570161117666190122101611. PMID: 30819073
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article

Diagnosis

Karska P, Matonog A, Sieradzka P, Kowalczyk K, Madej P
Ginekol Pol 2021;92(7):518-524. Epub 2021 Jun 9 doi: 10.5603/GP.a2021.0111. PMID: 34105755
Tsiligiannis S, Panay N, Stevenson JC
Curr Vasc Pharmacol 2019;17(6):604-609. doi: 10.2174/1570161117666190122101611. PMID: 30819073
Pastore LM, Christianson MS, Stelling J, Kearns WG, Segars JH
J Assist Reprod Genet 2018 Jan;35(1):17-23. Epub 2017 Oct 2 doi: 10.1007/s10815-017-1058-4. PMID: 28971280Free PMC Article
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article
Aiman J, Smentek C
Obstet Gynecol 1985 Jul;66(1):9-14. PMID: 3925400

Therapy

Yi Y, Fu J, Xie S, Zhang Q, Xu B, Wang Y, Wang Y, Li B, Zhao G, Li J, Li Y, Zhao J
Hum Reprod 2023 Nov 2;38(11):2247-2258. doi: 10.1093/humrep/dead180. PMID: 37713654
Lambertini M, Boni L, Michelotti A, Magnolfi E, Cogoni AA, Mosconi AM, Giordano M, Garrone O, Arpino G, Poggio F, Cinacchi P, Bighin C, Fregatti P, Pronzato P, Blondeaux E, Del Mastro L; GIM study group
J Natl Cancer Inst 2022 Mar 8;114(3):400-408. doi: 10.1093/jnci/djab213. PMID: 34850043Free PMC Article
Karska P, Matonog A, Sieradzka P, Kowalczyk K, Madej P
Ginekol Pol 2021;92(7):518-524. Epub 2021 Jun 9 doi: 10.5603/GP.a2021.0111. PMID: 34105755
Tosoni A, Balestrini D, Brandes AA
Expert Rev Anticancer Ther 2017 May;17(5):439-445. Epub 2017 Apr 17 doi: 10.1080/14737140.2017.1316195. PMID: 28395560
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article

Prognosis

Yi Y, Fu J, Xie S, Zhang Q, Xu B, Wang Y, Wang Y, Li B, Zhao G, Li J, Li Y, Zhao J
Hum Reprod 2023 Nov 2;38(11):2247-2258. doi: 10.1093/humrep/dead180. PMID: 37713654
Haavisto A, Wettergren L, Lampic C, Lähteenmäki PM, Jahnukainen K
Int J Cancer 2023 Aug 1;153(3):644-653. Epub 2023 Apr 20 doi: 10.1002/ijc.34541. PMID: 37078589
Hu YY, Zhong RH, Guo XJ, Li GT, Zhou JY, Yang WJ, Ren BT, Zhu Y
J Ethnopharmacol 2023 May 10;307:116242. Epub 2023 Feb 10 doi: 10.1016/j.jep.2023.116242. PMID: 36775079
Tsiligiannis S, Panay N, Stevenson JC
Curr Vasc Pharmacol 2019;17(6):604-609. doi: 10.2174/1570161117666190122101611. PMID: 30819073
Kalantaridou SN, Naka KK, Bechlioulis A, Makrigiannakis A, Michalis L, Chrousos GP
Trends Endocrinol Metab 2006 Apr;17(3):101-9. Epub 2006 Mar 3 doi: 10.1016/j.tem.2006.02.003. PMID: 16515863

Clinical prediction guides

Yi Y, Fu J, Xie S, Zhang Q, Xu B, Wang Y, Wang Y, Li B, Zhao G, Li J, Li Y, Zhao J
Hum Reprod 2023 Nov 2;38(11):2247-2258. doi: 10.1093/humrep/dead180. PMID: 37713654
Haavisto A, Wettergren L, Lampic C, Lähteenmäki PM, Jahnukainen K
Int J Cancer 2023 Aug 1;153(3):644-653. Epub 2023 Apr 20 doi: 10.1002/ijc.34541. PMID: 37078589
Hu YY, Zhong RH, Guo XJ, Li GT, Zhou JY, Yang WJ, Ren BT, Zhu Y
J Ethnopharmacol 2023 May 10;307:116242. Epub 2023 Feb 10 doi: 10.1016/j.jep.2023.116242. PMID: 36775079
Lambertini M, Boni L, Michelotti A, Magnolfi E, Cogoni AA, Mosconi AM, Giordano M, Garrone O, Arpino G, Poggio F, Cinacchi P, Bighin C, Fregatti P, Pronzato P, Blondeaux E, Del Mastro L; GIM study group
J Natl Cancer Inst 2022 Mar 8;114(3):400-408. doi: 10.1093/jnci/djab213. PMID: 34850043Free PMC Article
Jin M, Yu Y, Huang H
Sci China Life Sci 2012 Aug;55(8):677-86. Epub 2012 Aug 30 doi: 10.1007/s11427-012-4355-2. PMID: 22932883

Recent systematic reviews

Hu H, Zhang J, Xin X, Jin Y, Zhu Y, Zhang H, Fan R, Ye Y, Li D
J Ovarian Res 2024 Feb 20;17(1):46. doi: 10.1186/s13048-024-01369-5. PMID: 38378652Free PMC Article
Guo C, Ma Y, Situ Y, Liu L, Luo G, Li H, Ma W, Sun L, Wang W, Weng Q, Wu L, Fan D
Front Endocrinol (Lausanne) 2023;14:1165574. Epub 2023 Jul 6 doi: 10.3389/fendo.2023.1165574. PMID: 37484938Free PMC Article
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
Sheshpari S, Shahnazi M, Mobarak H, Ahmadian S, Bedate AM, Nariman-Saleh-Fam Z, Nouri M, Rahbarghazi R, Mahdipour M
J Transl Med 2019 Nov 29;17(1):396. doi: 10.1186/s12967-019-02149-2. PMID: 31783875Free PMC Article
Hoga L, Rodolpho J, Gonçalves B, Quirino B
JBI Database System Rev Implement Rep 2015 Sep 16;13(8):250-337. doi: 10.11124/jbisrir-2015-1948. PMID: 26455946

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