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Premature ovarian failure 5(POF5)

MedGen UID:
409743
•Concept ID:
C1969060
•
Disease or Syndrome
Synonym: POF5
 
Gene (location): NOBOX (7q35)
 
Monarch Initiative: MONDO:0012689
OMIM®: 611548

Definition

Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene. [from MONDO]

Clinical features

From HPO
Premature ovarian insufficiency
MedGen UID:
9963
•Concept ID:
C0025322
•
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
See: Feature record | Search on this feature
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
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
Streak ovary
MedGen UID:
78597
•Concept ID:
C0266371
•
Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
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Hypoplasia of the ovary
MedGen UID:
672766
•Concept ID:
C0685840
•
Congenital Abnormality
Developmental hypoplasia of the ovary.
See: Feature record | Search on this feature
Reduced antral follicle count
MedGen UID:
1766356
•Concept ID:
C5421599
•
Finding
A count of antral follicles that is lower than normal for age.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genetic screening in patients with ovarian dysfunction.
Zeng Y, Li L, Li Q, Hu J, Zhang N, Wu L, Yan Z, Qu R, Dong J, Liu R, Choy KW, Wang L, Sang Q, Guan Y, Chen B
Clin Genet 2023 Mar;103(3):352-357. Epub 2022 Nov 22 doi: 10.1111/cge.14267. PMID: 36373164
Progress in understanding and management of premature ovarian insufficiency.
Panay N
Climacteric 2021 Oct;24(5):423-424. doi: 10.1080/13697137.2021.1919460. PMID: 34498504
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Recent clinical studies

Etiology

Can we predict menopause and premature ovarian insufficiency?
Laven JSE, Louwers YV
Fertil Steril 2024 May;121(5):737-741. Epub 2024 Feb 19 doi: 10.1016/j.fertnstert.2024.02.029. PMID: 38382699
Menopausal hormone therapy and breast cancer risk.
Rozenberg S, Di Pietrantonio V, Vandromme J, Gilles C
Best Pract Res Clin Endocrinol Metab 2021 Dec;35(6):101577. Epub 2021 Sep 10 doi: 10.1016/j.beem.2021.101577. PMID: 34535397
Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.
Szeliga A, Calik-Ksepka A, Maciejewska-Jeske M, Grymowicz M, Smolarczyk K, Kostrzak A, Smolarczyk R, Rudnicka E, Meczekalski B
Int J Mol Sci 2021 Mar 5;22(5) doi: 10.3390/ijms22052594. PMID: 33807517Free PMC Article
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
Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease.
Honigberg MC, Zekavat SM, Aragam K, Finneran P, Klarin D, Bhatt DL, Januzzi JL Jr, Scott NS, Natarajan P
JAMA 2019 Dec 24;322(24):2411-2421. doi: 10.1001/jama.2019.19191. PMID: 31738818Free PMC Article

Diagnosis

Can we predict menopause and premature ovarian insufficiency?
Laven JSE, Louwers YV
Fertil Steril 2024 May;121(5):737-741. Epub 2024 Feb 19 doi: 10.1016/j.fertnstert.2024.02.029. PMID: 38382699
Premature ovarian insufficiency: an International Menopause Society White Paper.
Panay N, Anderson RA, Nappi RE, Vincent AJ, Vujovic S, Webber L, Wolfman W
Climacteric 2020 Oct;23(5):426-446. Epub 2020 Sep 8 doi: 10.1080/13697137.2020.1804547. PMID: 32896176
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
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
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Therapy

Menopausal hormone therapy and breast cancer risk.
Rozenberg S, Di Pietrantonio V, Vandromme J, Gilles C
Best Pract Res Clin Endocrinol Metab 2021 Dec;35(6):101577. Epub 2021 Sep 10 doi: 10.1016/j.beem.2021.101577. PMID: 34535397
A narrative review of platelet-rich plasma (PRP) in reproductive medicine.
Sharara FI, Lelea LL, Rahman S, Klebanoff JS, Moawad GN
J Assist Reprod Genet 2021 May;38(5):1003-1012. Epub 2021 Mar 15 doi: 10.1007/s10815-021-02146-9. PMID: 33723748Free PMC Article
Premature ovarian insufficiency: an International Menopause Society White Paper.
Panay N, Anderson RA, Nappi RE, Vincent AJ, Vujovic S, Webber L, Wolfman W
Climacteric 2020 Oct;23(5):426-446. Epub 2020 Sep 8 doi: 10.1080/13697137.2020.1804547. PMID: 32896176
Preservation of fertility in patients with cancer (Review).
Del-Pozo-Lérida S, Salvador C, Martínez-Soler F, Tortosa A, Perucho M, Giménez-Bonafé P
Oncol Rep 2019 May;41(5):2607-2614. Epub 2019 Mar 14 doi: 10.3892/or.2019.7063. PMID: 30896846
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Prognosis

Can we predict menopause and premature ovarian insufficiency?
Laven JSE, Louwers YV
Fertil Steril 2024 May;121(5):737-741. Epub 2024 Feb 19 doi: 10.1016/j.fertnstert.2024.02.029. PMID: 38382699
Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease.
Marnell CS, Bick A, Natarajan P
J Mol Cell Cardiol 2021 Dec;161:98-105. Epub 2021 Jul 21 doi: 10.1016/j.yjmcc.2021.07.004. PMID: 34298011Free PMC Article
Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease.
Honigberg MC, Zekavat SM, Aragam K, Finneran P, Klarin D, Bhatt DL, Januzzi JL Jr, Scott NS, Natarajan P
JAMA 2019 Dec 24;322(24):2411-2421. doi: 10.1001/jama.2019.19191. PMID: 31738818Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Clinical prediction guides

Can we predict menopause and premature ovarian insufficiency?
Laven JSE, Louwers YV
Fertil Steril 2024 May;121(5):737-741. Epub 2024 Feb 19 doi: 10.1016/j.fertnstert.2024.02.029. PMID: 38382699
Screening and prevention of ovarian cancer.
Sideris M, Menon U, Manchanda R
Med J Aust 2024 Mar 18;220(5):264-274. Epub 2024 Feb 14 doi: 10.5694/mja2.52227. PMID: 38353066
Ovarian Reserve Markers in Premature Ovarian Insufficiency: Within Different Clinical Stages and Different Etiologies.
Jiao X, Meng T, Zhai Y, Zhao L, Luo W, Liu P, Qin Y
Front Endocrinol (Lausanne) 2021;12:601752. Epub 2021 Mar 18 doi: 10.3389/fendo.2021.601752. PMID: 33815272Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free 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

Sexual function in women with premature ovarian insufficiency (POI): Systematic review and meta-analysis.
van Zwol-Janssens C, Pastoor H, Laven JSE, Louwers YV, Jiskoot G
Maturitas 2024 Jun;184:107994. Epub 2024 Apr 17 doi: 10.1016/j.maturitas.2024.107994. PMID: 38644091
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
The global prevalence of premature ovarian insufficiency: a systematic review and meta-analysis.
Li M, Zhu Y, Wei J, Chen L, Chen S, Lai D
Climacteric 2023 Apr;26(2):95-102. Epub 2022 Dec 15 doi: 10.1080/13697137.2022.2153033. PMID: 36519275
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
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

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