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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).
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
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Professional guidelines

PubMed

Treatment with Gonadotropin Releasing Hormone Agonists in Systemic Lupus Erythematosus Patients Receiving Cyclophosphamide: A Long-term Follow-up Study.
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

Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
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
Erxian decoction alleviates cisplatin-induced premature ovarian failure in rats by reducing oxidation levels in ovarian granulosa cells.
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
Protective properties of heme oxygenase-1 expressed in umbilical cord mesenchymal stem cells help restore the ovarian function of premature ovarian failure mice through activating the JNK/Bcl-2 signal pathway-regulated autophagy and upregulating the circulating of CD8(+)CD28(-) T cells.
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
Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease.
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
Molecular Genetics of Premature Ovarian Insufficiency.
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

Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
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
What Is the Best Regimen for Ovarian Stimulation of Poor Responders in ART/IVF?
Blumenfeld Z
Front Endocrinol (Lausanne) 2020;11:192. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00192. PMID: 32362870Free PMC Article
Turner syndrome and osteoporosis.
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
Inhibin and premature ovarian failure.
Chand AL, Harrison CA, Shelling AN
Hum Reprod Update 2010 Jan-Feb;16(1):39-50. doi: 10.1093/humupd/dmp031. PMID: 19752047
Premature ovarian failure.
Goswami D, Conway GS
Hum Reprod Update 2005 Jul-Aug;11(4):391-410. Epub 2005 May 26 doi: 10.1093/humupd/dmi012. PMID: 15919682

Therapy

Erxian decoction alleviates cisplatin-induced premature ovarian failure in rats by reducing oxidation levels in ovarian granulosa cells.
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
Long-Term Outcomes With Pharmacological Ovarian Suppression During Chemotherapy in Premenopausal Early Breast Cancer Patients.
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
Chemotherapy Associated Ovarian Failure.
Mauri D, Gazouli I, Zarkavelis G, Papadaki A, Mavroeidis L, Gkoura S, Ntellas P, Amylidi AL, Tsali L, Kampletsas E
Front Endocrinol (Lausanne) 2020;11:572388. Epub 2020 Dec 8 doi: 10.3389/fendo.2020.572388. PMID: 33363515Free PMC Article
What Is the Best Regimen for Ovarian Stimulation of Poor Responders in ART/IVF?
Blumenfeld Z
Front Endocrinol (Lausanne) 2020;11:192. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00192. PMID: 32362870Free PMC Article
Protective properties of heme oxygenase-1 expressed in umbilical cord mesenchymal stem cells help restore the ovarian function of premature ovarian failure mice through activating the JNK/Bcl-2 signal pathway-regulated autophagy and upregulating the circulating of CD8(+)CD28(-) T cells.
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

Association between ovarian reserve and spontaneous miscarriage and their shared genetic architecture.
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
Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
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
Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease.
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
Age at natural menopause and risk of incident cardiovascular disease: a pooled analysis of individual patient data.
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
Molecular Genetics of Premature Ovarian Insufficiency.
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

Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
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
Long-Term Outcomes With Pharmacological Ovarian Suppression During Chemotherapy in Premenopausal Early Breast Cancer Patients.
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
Protective properties of heme oxygenase-1 expressed in umbilical cord mesenchymal stem cells help restore the ovarian function of premature ovarian failure mice through activating the JNK/Bcl-2 signal pathway-regulated autophagy and upregulating the circulating of CD8(+)CD28(-) T cells.
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
Age at natural menopause and risk of incident cardiovascular disease: a pooled analysis of individual patient data.
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
Molecular Genetics of Premature Ovarian Insufficiency.
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

Platelet-rich plasma (PRP) treatment of the ovaries significantly improves fertility parameters and reproductive outcomes in diminished ovarian reserve patients: a systematic review and meta-analysis.
Éliás M, Kónya M, Kekk Z, Turan C, das Virgens IPA, Tóth R, Keszthelyi M, Hegyi P, Várbíró S, Sipos M
J Ovarian Res 2024 May 17;17(1):104. doi: 10.1186/s13048-024-01423-2. PMID: 38760869Free PMC Article
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
Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
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
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
Pregnancy following diagnosis of premature ovarian insufficiency: a systematic review.
Fraison E, Crawford G, Casper G, Harris V, Ledger W
Reprod Biomed Online 2019 Sep;39(3):467-476. Epub 2019 Apr 30 doi: 10.1016/j.rbmo.2019.04.019. PMID: 31279714

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