U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Premature ovarian failure 17(POF17)

MedGen UID:
1748767
•Concept ID:
C5436889
•
Disease or Syndrome
Synonyms: POF17; PREMATURE OVARIAN FAILURE 17
 
Gene (location): XRCC2 (7q36.1)
 
Monarch Initiative: MONDO:0030870
OMIM®: 619146

Definition

Premature ovarian failure-17 (POF17) is characterized by early cessation of menses after initial menarche, with small ovaries and uterus (Zhang et al., 2019). For a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

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 insuficiency (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
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
Decreased circulating inhibin B concentration
MedGen UID:
1392759
•Concept ID:
C4476969
•
Finding
The concentration of inhibin B in the blood circulation is below the lower limit of normal.
See: Feature record | Search on this feature
Show allHide all

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
Fertility Preservation in Cervical Cancer-Treatment Strategies and Indications.
Salman L, Covens A
Curr Oncol 2024 Jan 4;31(1):296-306. doi: 10.3390/curroncol31010019. PMID: 38248104Free PMC Article
Premature ovarian insufficiency: a review on the role of tobacco smoke, its clinical harm, and treatment.
Cui J, Wang Y
J Ovarian Res 2024 Jan 9;17(1):8. doi: 10.1186/s13048-023-01330-y. PMID: 38191456Free PMC Article

Recent clinical studies

Etiology

Fertility Preservation in Cervical Cancer-Treatment Strategies and Indications.
Salman L, Covens A
Curr Oncol 2024 Jan 4;31(1):296-306. doi: 10.3390/curroncol31010019. PMID: 38248104Free 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
Premature Ovarian Insufficiency and Long-Term Health Consequences.
Tsiligiannis S, Panay N, Stevenson JC
Curr Vasc Pharmacol 2019;17(6):604-609. doi: 10.2174/1570161117666190122101611. PMID: 30819073
Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article
Surgical menopause and cognitive decline.
Pines A
Climacteric 2014 Oct;17(5):580-2. Epub 2014 Feb 6 doi: 10.3109/13697137.2014.883244. PMID: 24502814

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
Fertility Preservation in Cervical Cancer-Treatment Strategies and Indications.
Salman L, Covens A
Curr Oncol 2024 Jan 4;31(1):296-306. doi: 10.3390/curroncol31010019. PMID: 38248104Free PMC Article
Premature Ovarian Insufficiency and Long-Term Health Consequences.
Tsiligiannis S, Panay N, Stevenson JC
Curr Vasc Pharmacol 2019;17(6):604-609. doi: 10.2174/1570161117666190122101611. PMID: 30819073
Reproductive ovarian testing and the alphabet soup of diagnoses: DOR, POI, POF, POR, and FOR.
Pastore LM, Christianson MS, Stelling J, Kearns WG, Segars JH
J Assist Reprod Genet 2018 Jan;35(1):17-23. Epub 2017 Oct 2 doi: 10.1007/s10815-017-1058-4. PMID: 28971280Free PMC Article
Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article

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
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
Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article
Surgical menopause and cognitive decline.
Pines A
Climacteric 2014 Oct;17(5):580-2. Epub 2014 Feb 6 doi: 10.3109/13697137.2014.883244. PMID: 24502814
Premature ovarian failure.
Starup J, Sele V
Acta Obstet Gynecol Scand 1973;52(3):259-68. PMID: 4743781

Prognosis

Immunophenotypic profiles and inflammatory markers in Premature Ovarian Insufficiency.
Kunicki M, Rzewuska N, Gross-Kępińska K
J Reprod Immunol 2024 Aug;164:104253. Epub 2024 May 11 doi: 10.1016/j.jri.2024.104253. PMID: 38776714
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
Jinfeng pills ameliorate premature ovarian insufficiency induced by cyclophosphamide in rats and correlate to modulating IL-17A/IL-6 axis and MEK/ERK signals.
Hu YY, Zhong RH, Guo XJ, Li GT, Zhou JY, Yang WJ, Ren BT, Zhu Y
J Ethnopharmacol 2023 May 10;307:116242. Epub 2023 Feb 10 doi: 10.1016/j.jep.2023.116242. PMID: 36775079
Premature Ovarian Insufficiency and Long-Term Health Consequences.
Tsiligiannis S, Panay N, Stevenson JC
Curr Vasc Pharmacol 2019;17(6):604-609. doi: 10.2174/1570161117666190122101611. PMID: 30819073
Smoking and reproduction.
Lincoln R
Fam Plann Perspect 1986 Mar-Apr;18(2):79-84. PMID: 3539634

Clinical prediction guides

Oligogenic basis of premature ovarian insufficiency: an observational study.
Long P, Wang L, Tan H, Quan R, Hu Z, Zeng M, Deng Z, Huang H, Greenbaum J, Deng H, Xiao H
J Ovarian Res 2024 Feb 3;17(1):32. doi: 10.1186/s13048-024-01351-1. PMID: 38310280Free PMC Article
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
Jinfeng pills ameliorate premature ovarian insufficiency induced by cyclophosphamide in rats and correlate to modulating IL-17A/IL-6 axis and MEK/ERK signals.
Hu YY, Zhong RH, Guo XJ, Li GT, Zhou JY, Yang WJ, Ren BT, Zhu Y
J Ethnopharmacol 2023 May 10;307:116242. Epub 2023 Feb 10 doi: 10.1016/j.jep.2023.116242. PMID: 36775079
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
A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.
Carlosama C, Elzaiat M, Patiño LC, Mateus HE, Veitia RA, Laissue P
Hum Mol Genet 2017 Aug 15;26(16):3161-3166. doi: 10.1093/hmg/ddx199. PMID: 28541421

Recent systematic reviews

Efficacy of intra-ovarian injection of autologous platelet-rich plasma in women with poor responders: a systematic review and meta-analysis.
Vahabi Dastjerdi M, Sheibani S, Taheri M, Hezarcheshmeh FK, Jahangirian J, Jazayeri M, Hosseinirad H, Doohandeh T, Valizadeh R
Arch Gynecol Obstet 2024 Jun;309(6):2323-2338. Epub 2024 Apr 8 doi: 10.1007/s00404-024-07442-0. PMID: 38589612
Efficacy of natural products on premature ovarian failure: a systematic review and meta-analysis of preclinical studies.
Hu H, Zhang J, Xin X, Jin Y, Zhu Y, Zhang H, Fan R, Ye Y, Li D
J Ovarian Res 2024 Feb 20;17(1):46. doi: 10.1186/s13048-024-01369-5. PMID: 38378652Free PMC Article
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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...