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Premature ovarian failure 13(POF13)

MedGen UID:
1393321
•Concept ID:
C4479510
•
Disease or Syndrome
Synonym: POF13
 
Gene (location): MSH5 (6p21.33)
 
Monarch Initiative: MONDO:0044317
OMIM®: 617442

Definition

Premature ovarian failure-13 (POF13) is characterized by female infertility due to secondary amenorrhea in the third decade of life. Patients exhibit atrophic ovaries devoid of follicles (Guo 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
Amenorrhea
MedGen UID:
8016
•Concept ID:
C0002453
•
Finding
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
See: Feature record | Search on this feature
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
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
Uterine hypoplasia
MedGen UID:
120575
•Concept ID:
C0266399
•
Congenital Abnormality
Underdevelopment of the uterus.
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

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
The Therapeutic Potential of Human Umbilical Cord Derived Mesenchymal Stem Cells for the Treatment of Premature Ovarian Failure.
Umer A, Khan N, Greene DL, Habiba UE, Shamim S, Khayam AU
Stem Cell Rev Rep 2023 Apr;19(3):651-666. Epub 2022 Dec 15 doi: 10.1007/s12015-022-10493-y. PMID: 36520408Free PMC Article
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article

Recent clinical studies

Etiology

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
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
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
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

Diagnosis

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
Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
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
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
Autoimmune primary ovarian insufficiency.
Silva CA, Yamakami LY, Aikawa NE, Araujo DB, Carvalho JF, Bonfá E
Autoimmun Rev 2014 Apr-May;13(4-5):427-30. Epub 2014 Jan 10 doi: 10.1016/j.autrev.2014.01.003. PMID: 24418305

Therapy

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
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
TrkB agonist antibody ameliorates fertility deficits in aged and cyclophosphamide-induced premature ovarian failure model mice.
Qin X, Zhao Y, Zhang T, Yin C, Qiao J, Guo W, Lu B
Nat Commun 2022 Feb 17;13(1):914. doi: 10.1038/s41467-022-28611-2. PMID: 35177657Free 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
Ovarian function, fertility and reproductive lifespan in cancer patients.
Jayasinghe YL, Wallace WHB, Anderson RA
Expert Rev Endocrinol Metab 2018 May;13(3):125-136. Epub 2018 Mar 28 doi: 10.1080/17446651.2018.1455498. PMID: 30058903

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
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
Ovarian function, fertility and reproductive lifespan in cancer patients.
Jayasinghe YL, Wallace WHB, Anderson RA
Expert Rev Endocrinol Metab 2018 May;13(3):125-136. Epub 2018 Mar 28 doi: 10.1080/17446651.2018.1455498. PMID: 30058903
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

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
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
Autoimmune primary ovarian insufficiency.
Silva CA, Yamakami LY, Aikawa NE, Araujo DB, Carvalho JF, Bonfá E
Autoimmun Rev 2014 Apr-May;13(4-5):427-30. Epub 2014 Jan 10 doi: 10.1016/j.autrev.2014.01.003. PMID: 24418305

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 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
Bone marrow mesenchymal stem cells in premature ovarian failure: Mechanisms and prospects.
Huang Y, Zhu M, Liu Z, Hu R, Li F, Song Y, Geng Y, Ma W, Song K, Zhang M
Front Immunol 2022;13:997808. Epub 2022 Oct 27 doi: 10.3389/fimmu.2022.997808. PMID: 36389844Free 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
Women's experience of menopause: a systematic review of qualitative evidence.
Hoga L, Rodolpho J, Gonçalves B, Quirino B
JBI Database System Rev Implement Rep 2015 Sep 16;13(8):250-337. doi: 10.11124/jbisrir-2015-1948. PMID: 26455946

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