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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

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
Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.
Zajicek M, Volodarsky-Perel A, Shai D, Dick-Necula D, Raanani H, Gruber N, Karplus G, Kassif E, Weisz B, Meirow D
Reprod Biomed Online 2023 Jul;47(1):102-109. Epub 2023 Mar 12 doi: 10.1016/j.rbmo.2023.03.004. PMID: 37120360
Ovarian failure and reproductive outcomes after childhood cancer treatment: results from the Childhood Cancer Survivor Study.
Green DM, Sklar CA, Boice JD Jr, Mulvihill JJ, Whitton JA, Stovall M, Yasui Y
J Clin Oncol 2009 May 10;27(14):2374-81. Epub 2009 Apr 13 doi: 10.1200/JCO.2008.21.1839. PMID: 19364956Free PMC Article

Recent clinical studies

Etiology

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
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

Diagnosis

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
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
Premature ovarian failure.
Aiman J, Smentek C
Obstet Gynecol 1985 Jul;66(1):9-14. PMID: 3925400

Therapy

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
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
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

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
LncRNA DLEU1 is overexpressed in premature ovarian failure and sponges miR-146b-5p to increase granulosa cell apoptosis.
Zheng C, Liu S, Qin Z, Zhang X, Song Y
J Ovarian Res 2021 Nov 5;14(1):151. doi: 10.1186/s13048-021-00905-x. PMID: 34740384Free PMC Article
miR-21 and Pellino-1 Expression Profiling in Autoimmune Premature Ovarian Insufficiency.
Li X, Xie J, Wang Q, Cai H, Xie C, Fu X
J Immunol Res 2020;2020:3582648. Epub 2020 Apr 13 doi: 10.1155/2020/3582648. PMID: 32352018Free 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

Immunity and reproduction protective effects of Chitosan Oligosaccharides in Cyclophosphamide/Busulfan-induced premature ovarian failure model mice.
Li X, Ye H, Su T, Hu C, Huang Y, Fu X, Zhong Z, Du X, Zheng Y
Front Immunol 2023;14:1185921. Epub 2023 May 9 doi: 10.3389/fimmu.2023.1185921. PMID: 37228612Free PMC Article
Association of Age at Menopause and Hormone Therapy Use With Tau and β-Amyloid Positron Emission Tomography.
Coughlan GT, Betthauser TJ, Boyle R, Koscik RL, Klinger HM, Chibnik LB, Jonaitis EM, Yau WW, Wenzel A, Christian BT, Gleason CE, Saelzler UG, Properzi MJ, Schultz AP, Hanseeuw BJ, Manson JE, Rentz DM, Johnson KA, Sperling R, Johnson SC, Buckley RF
JAMA Neurol 2023 May 1;80(5):462-473. doi: 10.1001/jamaneurol.2023.0455. PMID: 37010830Free 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
LncRNA DLEU1 is overexpressed in premature ovarian failure and sponges miR-146b-5p to increase granulosa cell apoptosis.
Zheng C, Liu S, Qin Z, Zhang X, Song Y
J Ovarian Res 2021 Nov 5;14(1):151. doi: 10.1186/s13048-021-00905-x. PMID: 34740384Free 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

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
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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