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Premature ovarian failure 11(POF11)

MedGen UID:
934750
Concept ID:
C4310783
Disease or Syndrome
Synonym: POF11
 
Gene (location): ERCC6 (10q11.23)
 
Monarch Initiative: MONDO:0014843
OMIM®: 616946

Definition

Premature ovarian failure-11 (POF11) is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone (FSH; see 136530) levels before age 40 years (Qin et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Clinical features

From HPO
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
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.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.

Professional guidelines

PubMed

Orefice V, Ceccarelli F, Perrone G, Perricone C, Galoppi P, Pacucci VA, Spinelli FR, Alessandri C, Brunelli R, Conti F
Isr Med Assoc J 2020 Jun;22(6):343-347. PMID: 32558438

Recent clinical studies

Etiology

Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free 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
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
Zhu D, Chung HF, Dobson AJ, Pandeya N, Giles GG, Bruinsma F, Brunner EJ, Kuh D, Hardy R, Avis NE, Gold EB, Derby CA, Matthews KA, Cade JE, Greenwood DC, Demakakos P, Brown DE, Sievert LL, Anderson D, Hayashi K, Lee JS, Mizunuma H, Tillin T, Simonsen MK, Adami HO, Weiderpass E, Mishra GD
Lancet Public Health 2019 Nov;4(11):e553-e564. Epub 2019 Oct 3 doi: 10.1016/S2468-2667(19)30155-0. PMID: 31588031Free PMC Article
Jiao X, Ke H, Qin Y, Chen ZJ
Trends Endocrinol Metab 2018 Nov;29(11):795-807. Epub 2018 Aug 2 doi: 10.1016/j.tem.2018.07.002. PMID: 30078697

Diagnosis

Jin J, Ruan X, Hua L, Mueck AO
Gynecol Endocrinol 2023 Dec;39(1):2254847. doi: 10.1080/09513590.2023.2254847. PMID: 37673099
Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free PMC Article
Javadpour S, Sharifi N, Mosallanezhad Z, Rasekhjahromi A, Jamali S
Gynecol Endocrinol 2021 Apr;37(4):307-311. Epub 2021 Jan 12 doi: 10.1080/09513590.2021.1871894. PMID: 33432868
Blumenfeld Z
Front Endocrinol (Lausanne) 2020;11:192. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00192. PMID: 32362870Free PMC Article
Augoulea A, Zachou G, Lambrinoudaki I
Maturitas 2019 Dec;130:41-49. Epub 2019 Sep 25 doi: 10.1016/j.maturitas.2019.09.010. PMID: 31706435

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
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
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
Blumenfeld Z
Front Endocrinol (Lausanne) 2020;11:192. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00192. PMID: 32362870Free PMC Article
Yin N, Wu C, Qiu J, Zhang Y, Bo L, Xu Y, Shi M, Zhu S, Yang G, Mao C
Stem Cell Res Ther 2020 Feb 4;11(1):49. doi: 10.1186/s13287-019-1537-x. PMID: 32019599Free 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
Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free 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
Zhu D, Chung HF, Dobson AJ, Pandeya N, Giles GG, Bruinsma F, Brunner EJ, Kuh D, Hardy R, Avis NE, Gold EB, Derby CA, Matthews KA, Cade JE, Greenwood DC, Demakakos P, Brown DE, Sievert LL, Anderson D, Hayashi K, Lee JS, Mizunuma H, Tillin T, Simonsen MK, Adami HO, Weiderpass E, Mishra GD
Lancet Public Health 2019 Nov;4(11):e553-e564. Epub 2019 Oct 3 doi: 10.1016/S2468-2667(19)30155-0. PMID: 31588031Free PMC Article
Jiao X, Ke H, Qin Y, Chen ZJ
Trends Endocrinol Metab 2018 Nov;29(11):795-807. Epub 2018 Aug 2 doi: 10.1016/j.tem.2018.07.002. PMID: 30078697

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
Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free 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
Zhu D, Chung HF, Dobson AJ, Pandeya N, Giles GG, Bruinsma F, Brunner EJ, Kuh D, Hardy R, Avis NE, Gold EB, Derby CA, Matthews KA, Cade JE, Greenwood DC, Demakakos P, Brown DE, Sievert LL, Anderson D, Hayashi K, Lee JS, Mizunuma H, Tillin T, Simonsen MK, Adami HO, Weiderpass E, Mishra GD
Lancet Public Health 2019 Nov;4(11):e553-e564. Epub 2019 Oct 3 doi: 10.1016/S2468-2667(19)30155-0. PMID: 31588031Free PMC Article
Jiao X, Ke H, Qin Y, Chen ZJ
Trends Endocrinol Metab 2018 Nov;29(11):795-807. Epub 2018 Aug 2 doi: 10.1016/j.tem.2018.07.002. PMID: 30078697

Recent systematic reviews

Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free PMC Article
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
Fakkert IE, Teixeira N, Abma EM, Slart R, Mourits M, de Bock GH
BJOG 2017 Sep;124(10):1525-1535. Epub 2017 Jun 26 doi: 10.1111/1471-0528.14703. PMID: 28436196
Muka T, Oliver-Williams C, Kunutsor S, Laven JS, Fauser BC, Chowdhury R, Kavousi M, Franco OH
JAMA Cardiol 2016 Oct 1;1(7):767-776. doi: 10.1001/jamacardio.2016.2415. PMID: 27627190
Al Kadri H, Hassan S, Al-Fozan HM, Hajeer A
Cochrane Database Syst Rev 2009 Jan 21;(1):CD005997. doi: 10.1002/14651858.CD005997.pub2. PMID: 19160262

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