Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Premature ovarian failure 5(POF5)

MedGen UID:: 409743
•Concept ID:: C1969060
•: Disease or Syndrome

Synonym:	POF5

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

See: Feature record | Search on this feature

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

Abnormality of the genitourinary system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Disorder of the genitourinary system
- Diseases, Genital
  - Disorder of female genital system
    - Adnexal Diseases
      - Disorder of ovary
        Premature ovarian failure
        Premature ovarian failure 5

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

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: 30586774 Free PMC Article

Premature ovarian insufficiency: from pathogenesis to clinical management.

Luisi S, Orlandini C, Regini C, Pizzo A, Vellucci F, Petraglia F
J Endocrinol Invest 2015 Jun;38(6):597-603. Epub 2015 Jan 18 doi: 10.1007/s40618-014-0231-1. PMID: 25596661

See all (97)

Recent clinical studies

Etiology

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

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: 33815272 Free PMC Article

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: 33807517 Free 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: 33028606 Free 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: 31738818 Free PMC Article

See all (821)

Diagnosis

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: 33815272 Free 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

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: 30156052 Free 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: 20459843 Free PMC Article

See all (387)

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: 33723748 Free 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

See all (453)

Prognosis

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: 34298011 Free PMC Article

Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease.

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: 26243799 Free 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: 20459843 Free PMC Article

See all (251)

Clinical prediction guides

Age at Menopause, Leukocyte Telomere Length, and Coronary Artery Disease in Postmenopausal Women.

Schuermans A, Nakao T, Uddin MM, Hornsby W, Ganesh S, Shadyab AH, Liu S, Haring B, Shufelt CL, Taub MA, Mathias RA, Kooperberg C, Reiner AP, Bick AG, Manson JE, Natarajan P, Honigberg MC
Circ Res 2023 Aug 18;133(5):376-386. Epub 2023 Jul 25 doi: 10.1161/CIRCRESAHA.123.322984. PMID: 37489536 Free PMC Article

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: 33815272 Free 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: 33348841 Free 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: 26243799 Free PMC Article

See all (387)

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: 37484938 Free 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: 35199164 Free PMC Article

Factors associated with fertility abnormalities in women with systemic lupus erythematosus: a systematic review and meta-analysis.

Giambalvo S, Garaffoni C, Silvagni E, Furini F, Rizzo R, Govoni M, Bortoluzzi A
Autoimmun Rev 2022 Apr;21(4):103038. Epub 2022 Jan 4 doi: 10.1016/j.autrev.2022.103038. PMID: 34995765

See all (23)

MedGen

National Center for Biotechnology Information

Send to:

Premature ovarian failure 5(POF5)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity