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Premature ovarian failure 14(POF14)

MedGen UID:
1646133
•Concept ID:
C4693941
•
Disease or Syndrome
Synonyms: POF14; PREMATURE OVARIAN FAILURE 14
 
Gene (location): GDF9 (5q31.1)
 
Monarch Initiative: MONDO:0044777
OMIM®: 618014

Definition

Premature ovarian failure-14 (POF14) is characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels (Franca et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Clinical features

From HPO
Primary amenorrhea
MedGen UID:
115918
•Concept ID:
C0232939
•
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
See: Feature record | Search on this feature
Decreased serum estradiol
MedGen UID:
69129
•Concept ID:
C0241011
•
Finding
A reduction below normal concentration of estradiol in the circulation.
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
Elevated circulating luteinizing hormone level
MedGen UID:
868698
•Concept ID:
C4023101
•
Finding
An elevated concentration of luteinizing hormone in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

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
Practice guideline on ovarian tissue cryopreservation and transplantation in the prevention and treatment of iatrogenic premature ovarian insufficiency.
Ruan X, Xu C, Huang H, Xu B, Du J, Cheng J, Jin F, Gu M, Kong W, Yin C, Wu Y, Tian Q, Cao Y, Wu R, Xu L, Jin J, Li Y, Dai Y, Ju R, Ma F, Wang G, Wei W, Huang X, Qin M, Lin Y, Sun Y, Liu R, Zhang W, Li X, Zou L, Hao M, Ye X, Wang F, Wang Y, Hu Z, Huang Y, Zhu T, Yang C, Wang J, Yang X, Ni R, Wang L, Luo G, Min A, Zhang S, Li P, Cheng L, Li L, Jin Q, Shi D, Li Y, Ren F, Cheng Y, Niu J, Tian Y, Mueck AO
Maturitas 2024 Apr;182:107922. Epub 2024 Jan 26 doi: 10.1016/j.maturitas.2024.107922. PMID: 38325136
Genetically predicted serum testosterone and risk of gynecological disorders: a Mendelian randomization study.
Zhao B, Wang Z, Liu D, Zhang S
Front Endocrinol (Lausanne) 2023;14:1161356. Epub 2023 Nov 21 doi: 10.3389/fendo.2023.1161356. PMID: 38075074Free PMC Article

Recent clinical studies

Etiology

Reproductive health in Turner's syndrome: from puberty to pregnancy.
Porcu E, Cipriani L, Damiano G
Front Endocrinol (Lausanne) 2023;14:1269009. Epub 2023 Dec 5 doi: 10.3389/fendo.2023.1269009. PMID: 38116311Free PMC Article
Human UC-MSC-derived exosomes facilitate ovarian renovation in rats with chemotherapy-induced premature ovarian insufficiency.
Pu X, Zhang L, Zhang P, Xu Y, Wang J, Zhao X, Dai Z, Zhou H, Zhao S, Fan A
Front Endocrinol (Lausanne) 2023;14:1205901. Epub 2023 Jul 26 doi: 10.3389/fendo.2023.1205901. PMID: 37564988Free PMC Article
Single-cell RNA sequencing of peripheral blood reveals immune cell dysfunction in premature ovarian insufficiency.
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
Adipose-derived stem cells promote the repair of chemotherapy-induced premature ovarian failure by inhibiting granulosa cells apoptosis and senescence.
Ai G, Meng M, Guo J, Li C, Zhu J, Liu L, Liu B, Yang W, Shao X, Cheng Z, Wang L
Stem Cell Res Ther 2023 Apr 11;14(1):75. doi: 10.1186/s13287-023-03297-5. PMID: 37038203Free 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

Diagnosis

Polycomb repressive complex 1 modulates granulosa cell proliferation in early folliculogenesis to support female reproduction.
Gao M, Zhang T, Chen T, Chen Z, Zhu Z, Wen Y, Qin S, Bao Y, Zhao T, Li H, Liu L, Hao M, Wang J, Wang F, Wang H, Zhou B, Zhang H, Xia G, Wang C
Theranostics 2024;14(4):1371-1389. Epub 2024 Jan 27 doi: 10.7150/thno.89878. PMID: 38389850Free PMC Article
Human UC-MSC-derived exosomes facilitate ovarian renovation in rats with chemotherapy-induced premature ovarian insufficiency.
Pu X, Zhang L, Zhang P, Xu Y, Wang J, Zhao X, Dai Z, Zhou H, Zhao S, Fan A
Front Endocrinol (Lausanne) 2023;14:1205901. Epub 2023 Jul 26 doi: 10.3389/fendo.2023.1205901. PMID: 37564988Free PMC Article
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A
Nat Med 2023 Jul;29(7):1692-1699. Epub 2023 Jun 22 doi: 10.1038/s41591-023-02405-5. PMID: 37349538
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Luo W, Ke H, Tang S, Jiao X, Li Z, Zhao S, Zhang F, Guo T, Qin Y
J Ovarian Res 2023 Feb 15;16(1):39. doi: 10.1186/s13048-023-01104-6. PMID: 36793102Free PMC Article
SALL4: engine of cell stemness.
Xiong J
Curr Gene Ther 2014;14(5):400-11. doi: 10.2174/1566523214666140825125138. PMID: 25174577

Therapy

Metformin protects ovarian granulosa cells in chemotherapy-induced premature ovarian failure mice through AMPK/PPAR-γ/SIRT1 pathway.
Yang Y, Tang X, Yao T, Zhang Y, Zhong Y, Wu S, Wang Y, Pan Z
Sci Rep 2024 Jan 16;14(1):1447. doi: 10.1038/s41598-024-51990-z. PMID: 38228655Free PMC Article
Premature ovarian insufficiency: a review on the role of oxidative stress and the application of antioxidants.
Shi YQ, Zhu XT, Zhang SN, Ma YF, Han YH, Jiang Y, Zhang YH
Front Endocrinol (Lausanne) 2023;14:1172481. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1172481. PMID: 37600717Free PMC Article
Human UC-MSC-derived exosomes facilitate ovarian renovation in rats with chemotherapy-induced premature ovarian insufficiency.
Pu X, Zhang L, Zhang P, Xu Y, Wang J, Zhao X, Dai Z, Zhou H, Zhao S, Fan A
Front Endocrinol (Lausanne) 2023;14:1205901. Epub 2023 Jul 26 doi: 10.3389/fendo.2023.1205901. PMID: 37564988Free PMC Article
Adipose-derived stem cells promote the repair of chemotherapy-induced premature ovarian failure by inhibiting granulosa cells apoptosis and senescence.
Ai G, Meng M, Guo J, Li C, Zhu J, Liu L, Liu B, Yang W, Shao X, Cheng Z, Wang L
Stem Cell Res Ther 2023 Apr 11;14(1):75. doi: 10.1186/s13287-023-03297-5. PMID: 37038203Free 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

Prognosis

Association of infertility and recurrent pregnancy loss with the risk of dementia.
Liang C, Dobson AJ, Chung HF, van der Schouw YT, Sandin S, Weiderpass E, Mishra GD
Eur J Epidemiol 2024 Jul;39(7):785-793. Epub 2024 Jun 18 doi: 10.1007/s10654-024-01135-3. PMID: 38888679Free PMC Article
Zishen Yutai pills restore fertility in premature ovarian failure through regulating arachidonic acid metabolism and the ATK pathway.
Dang L, Dong Y, Zhang C, Su B, Ning N, Zhou S, Zhang M, Huang Q, Li Y, Wang S
J Ethnopharmacol 2024 Apr 24;324:117782. Epub 2024 Jan 24 doi: 10.1016/j.jep.2024.117782. PMID: 38272104
Integrated metabolomics and transcriptomics to reveal biomarkers and mitochondrial metabolic dysregulation of premature ovarian insufficiency.
Yu Z, Peng W, Li F, Fu X, Wang J, Ding H, Li M, Wu H
Front Endocrinol (Lausanne) 2023;14:1280248. Epub 2023 Dec 21 doi: 10.3389/fendo.2023.1280248. PMID: 38179298Free PMC Article
Genetically predicted serum testosterone and risk of gynecological disorders: a Mendelian randomization study.
Zhao B, Wang Z, Liu D, Zhang S
Front Endocrinol (Lausanne) 2023;14:1161356. Epub 2023 Nov 21 doi: 10.3389/fendo.2023.1161356. PMID: 38075074Free 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

Clinical prediction guides

Metformin protects ovarian granulosa cells in chemotherapy-induced premature ovarian failure mice through AMPK/PPAR-γ/SIRT1 pathway.
Yang Y, Tang X, Yao T, Zhang Y, Zhong Y, Wu S, Wang Y, Pan Z
Sci Rep 2024 Jan 16;14(1):1447. doi: 10.1038/s41598-024-51990-z. PMID: 38228655Free PMC Article
Integrated metabolomics and transcriptomics to reveal biomarkers and mitochondrial metabolic dysregulation of premature ovarian insufficiency.
Yu Z, Peng W, Li F, Fu X, Wang J, Ding H, Li M, Wu H
Front Endocrinol (Lausanne) 2023;14:1280248. Epub 2023 Dec 21 doi: 10.3389/fendo.2023.1280248. PMID: 38179298Free PMC Article
Genetically predicted serum testosterone and risk of gynecological disorders: a Mendelian randomization study.
Zhao B, Wang Z, Liu D, Zhang S
Front Endocrinol (Lausanne) 2023;14:1161356. Epub 2023 Nov 21 doi: 10.3389/fendo.2023.1161356. PMID: 38075074Free 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
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

Recent systematic reviews

Childhood adversity and accelerated reproductive events: a systematic review and meta-analysis.
Ding W, Xu Y, Kondracki AJ, Sun Y
Am J Obstet Gynecol 2024 Mar;230(3):315-329.e31. Epub 2023 Oct 10 doi: 10.1016/j.ajog.2023.10.005. PMID: 37820985
Mesenchymal stem cells therapy improves ovarian function in premature ovarian failure: a systematic review and meta-analysis based on preclinical studies.
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
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
Hormone therapy for uterine and endometrial development in women with premature ovarian insufficiency.
Craciunas L, Zdoukopoulos N, Vinayagam S, Mohiyiddeen L
Cochrane Database Syst Rev 2022 Oct 6;10(10):CD008209. doi: 10.1002/14651858.CD008209.pub2. PMID: 36200708Free 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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