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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 primary amenorrhea, oligomenorrhea, or secondary amenorrhea; small ovaries with reduced or absent follicles; and elevated gonadotropic hormones (Fouquet et al., 2017; Jaillard et al., 2020; Heddar et al., 2022). 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

Long-term risk of second malignancy and cardiovascular disease after Hodgkin lymphoma treatment.
van Leeuwen FE, Ng AK
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):323-330. doi: 10.1182/asheducation-2016.1.323. PMID: 27913498Free PMC Article
Diagnosis and management of osteoporosis.
Ralston SH, Fraser J
Practitioner 2015 Dec;259(1788):15-9, 2. PMID: 26882774
Feasibility of transposition of the ovaries in the surgical and radiotherapeutical treatment of cervical cancer.
van Beurden M, Schuster-Uitterhoeve AL, Lammes FB
Eur J Surg Oncol 1990 Apr;16(2):141-6. PMID: 2323410

Recent clinical studies

Etiology

Sex-Based Differences in Heart Failure: JACC Focus Seminar 7/7.
Khan SS, Beach LB, Yancy CW
J Am Coll Cardiol 2022 Apr 19;79(15):1530-1541. doi: 10.1016/j.jacc.2022.02.013. PMID: 35422249
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
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
Osteoporosis and smoking.
Daniell HW
JAMA 1972 Jul 31;221(5):509. PMID: 5067964

Diagnosis

Sex-Based Differences in Heart Failure: JACC Focus Seminar 7/7.
Khan SS, Beach LB, Yancy CW
J Am Coll Cardiol 2022 Apr 19;79(15):1530-1541. doi: 10.1016/j.jacc.2022.02.013. PMID: 35422249
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
Breast cancer in adolescents and young adults.
Johnson RH, Anders CK, Litton JK, Ruddy KJ, Bleyer A
Pediatr Blood Cancer 2018 Dec;65(12):e27397. Epub 2018 Aug 28 doi: 10.1002/pbc.27397. PMID: 30156052Free PMC Article
Who will assess cognitive change?
Mander AM
Menopause Int 2009 Sep;15(3):94-5. doi: 10.1258/mi.2009.009031. PMID: 19723675
Follow-up after treatment for breast cancer in young women.
Roche N
Breast 2006 Dec;15 Suppl 2:S71-5. doi: 10.1016/S0960-9776(07)70022-X. PMID: 17382867

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
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
A current perspective into young female sex hormone replacement: a review.
Giordano Imbroll M, Gruppetta M
Expert Rev Endocrinol Metab 2020 Nov;15(6):405-414. Epub 2020 Sep 6 doi: 10.1080/17446651.2020.1816820. PMID: 32893689
Fertility preservation.
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

Characteristics of retinal image associated with premature ovarian insufficiency: a case- control study.
Wu J, Tan L, Ning Y, Yuan W, Lee Z, Ma F, Wang E, Zhuo Y
J Ovarian Res 2023 Jul 24;16(1):146. doi: 10.1186/s13048-023-01231-0. PMID: 37488629Free 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
Use of antimüllerian hormone to predict the menopausal transition in HIV-infected women.
Scherzer R, Greenblatt RM, Merhi ZO, Kassaye S, Lambert-Messerlian G, Maki PM, Murphy K, Karim R, Bacchetti P
Am J Obstet Gynecol 2017 Jan;216(1):46.e1-46.e11. Epub 2016 Jul 26 doi: 10.1016/j.ajog.2016.07.048. PMID: 27473002Free 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

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
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
Osteoporosis and smoking.
Daniell HW
JAMA 1972 Jul 31;221(5):509. PMID: 5067964

Recent systematic reviews

Early menopause is associated with increased risk of heart failure and atrial fibrillation: A systematic review and meta-analysis.
Liu J, Jin X, Chen W, Wang L, Feng Z, Huang J
Maturitas 2023 Oct;176:107784. Epub 2023 Jun 7 doi: 10.1016/j.maturitas.2023.107784. PMID: 37454569
Early menopause and premature ovarian insufficiency are associated with increased risk of dementia: A systematic review and meta-analysis of observational studies.
Karamitrou EK, Anagnostis P, Vaitsi K, Athanasiadis L, Goulis DG
Maturitas 2023 Oct;176:107792. Epub 2023 Jun 23 doi: 10.1016/j.maturitas.2023.107792. PMID: 37393661
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
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
Fresh and cryopreserved ovarian tissue transplantation for preserving reproductive and endocrine function: a systematic review and individual patient data meta-analysis.
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

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