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Premature ovarian failure 15(POF15)

MedGen UID:
1648369
•Concept ID:
C4748170
•
Disease or Syndrome
Synonyms: POF15; PREMATURE OVARIAN FAILURE 15
 
Gene (location): FANCM (14q21.2)
 
Monarch Initiative: MONDO:0054862
OMIM®: 618096

Definition

Premature ovarian failure-15 (POF15) is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones (Fouquet et al., 2017). 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
Irregular menstruation
MedGen UID:
56379
•Concept ID:
C0156404
•
Finding
Abnormally high variation in the amount of time between periods.
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
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

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Recent clinical studies

Etiology

What should be done in terms of fertility preservation for patients with cancer? The French 2021 guidelines.
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Eur J Cancer 2022 Sep;173:146-166. Epub 2022 Aug 3 doi: 10.1016/j.ejca.2022.05.013. PMID: 35932626
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Saha S, Roy P, Corbitt C, Kakar SS
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Association between the reproductive health of young women and cardiovascular disease in later life: umbrella review.
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
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Diagnosis

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The Role of Arachidonic and Linoleic Acid Derivatives in Pathological Pregnancies and the Human Reproduction Process.
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
Breast cancer in adolescents and young adults.
Johnson RH, Anders CK, Litton JK, Ruddy KJ, Bleyer A
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Fertility preservation.
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Mayo Clin Proc 2011 Jan;86(1):45-9. doi: 10.4065/mcp.2010.0564. PMID: 21193655Free PMC Article

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
Quercetin alleviates cyclophosphamide-induced premature ovarian insufficiency in mice by reducing mitochondrial oxidative stress and pyroptosis in granulosa cells.
Chen Y, Zhao Y, Miao C, Yang L, Wang R, Chen B, Zhang Q
J Ovarian Res 2022 Dec 27;15(1):138. doi: 10.1186/s13048-022-01080-3. PMID: 36572950Free PMC Article
Metabolic differences in women with premature ovarian insufficiency: a systematic review and meta-analysis.
Cai WY, Luo X, Wu W, Song J, Xie NN, Duan C, Wu XK, Xu J
J Ovarian Res 2022 Sep 30;15(1):109. doi: 10.1186/s13048-022-01041-w. PMID: 36180908Free PMC Article
Application of Stem Cell Therapy for Infertility.
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Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
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Jensen JR, Morbeck DE, Coddington CC 3rd
Mayo Clin Proc 2011 Jan;86(1):45-9. doi: 10.4065/mcp.2010.0564. PMID: 21193655Free PMC Article

Prognosis

microRNAs in female infertility: An overview.
Bahmyari S, Jamali Z, Khatami SH, Vakili O, Roozitalab M, Savardashtaki A, Solati A, Mousavi P, Shabaninejad Z, Vakili S, Behrouj H, Ghasemi H, Movahedpour A
Cell Biochem Funct 2021 Dec;39(8):955-969. Epub 2021 Oct 27 doi: 10.1002/cbf.3671. PMID: 34708430
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
The Role of Arachidonic and Linoleic Acid Derivatives in Pathological Pregnancies and the Human Reproduction Process.
Szczuko M, Kikut J, Komorniak N, Bilicki J, Celewicz Z, Ziętek M
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Age at natural menopause and risk of incident cardiovascular disease: a pooled analysis of individual patient data.
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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

Application of Stem Cell Therapy for Infertility.
Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
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
The Role of Arachidonic and Linoleic Acid Derivatives in Pathological Pregnancies and the Human Reproduction Process.
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
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
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

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Early menopause and premature ovarian insufficiency may increase the risk of sarcopenia: A systematic review and meta-analysis.
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Maturitas 2023 Sep;175:107782. Epub 2023 Jun 7 doi: 10.1016/j.maturitas.2023.05.006. PMID: 37331156
Metabolic differences in women with premature ovarian insufficiency: a systematic review and meta-analysis.
Cai WY, Luo X, Wu W, Song J, Xie NN, Duan C, Wu XK, Xu J
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