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Premature ovarian failure 21(POF21)

MedGen UID:
1841035
•Concept ID:
C5830399
•
Disease or Syndrome
Synonym:POF21
 
Gene (location):
Gene(s) directly associated with
this condition or phenotype.
TP63 (3q28)
 
Monarch Initiative:MONDO:0957216
OMIM®:620311

Definition

Premature ovarian failure-21 (POF21) is characterized by female infertility due to primary or secondary amenorrhea. Ovaries are small, atrophic, or nonvisualized on ultrasound (Tucker et al., 2019; Tucker et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of POF, see POF1 (311360). [fromOMIM]

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.
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.
Decreased serum estradiol
MedGen UID:
69129
•Concept ID:
C0241011
•
Finding
A reduction below normal concentration of estradiol in the circulation.
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.
Precocious puberty in females
MedGen UID:
543449
•Concept ID:
C0271616
•
Disease or Syndrome
The onset of puberty before the age of 8 years in girls.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
•Concept ID:
C4021550
•
Finding
An elevated concentration of follicle-stimulating hormone in the blood.

Professional guidelines

PubMed

Duffin K,Howie R,Kelsey TW,Wallace HB,Anderson RA
Hum Reprod2023 Jun 1;38(6):1076-1085.doi: 10.1093/humrep/dead060.PMID:37011633Free PMC Article
Richardson A,Haridass SA,Ward E,Ayres J,Baskind NE
Post Reprod Health2018 Dec;24(4):155-162.Epub 2018 Nov 4doi: 10.1177/2053369118811233.PMID:30392440
Hague WM
Aust Fam Physician1992 Mar;21(3):252-4.PMID:1605764
These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See theFAQ for details.
These guidelines are manually curated by the MedGen team to supplement articles available in PubMed. See theFAQ for details.

Recent clinical studies

Etiology

Mehta JM,Manson JE
Nat Rev Cardiol2024 Mar;21(3):203-211.Epub 2023 Sep 26doi: 10.1038/s41569-023-00926-7.PMID:37752349
Su C,Zhang R,Zhang X,Lv M,Liu X,Ao K,Hao J,Mu YL
J Ethnopharmacol2023 Oct 28;315:116703.Epub 2023 May 29doi: 10.1016/j.jep.2023.116703.PMID:37257704
Szczuko M,Kikut J,Komorniak N,Bilicki J,Celewicz Z,Ziętek M
Int J Mol Sci2020 Dec 17;21(24)doi: 10.3390/ijms21249628.PMID:33348841Free PMC Article
Qin Y,Jiao X,Simpson JL,Chen ZJ
Hum Reprod Update2015 Nov-Dec;21(6):787-808.Epub 2015 Aug 4doi: 10.1093/humupd/dmv036.PMID:26243799Free PMC Article
Liao KL,Wood N,Conway GS
J Psychosom Obstet Gynaecol2000 Sep;21(3):167-74.doi: 10.3109/01674820009075624.PMID:11076338

Diagnosis

Anagnostis P,Mikhailidis DP,Blinc A,Jensterle M,Ježovnik MK,Schernthaner GH,Antignani PL,Studen KB,Šabović M,Poredos P
Curr Vasc Pharmacol2023;21(5):293-296.doi: 10.2174/0115701611263345230919122907.PMID:37779405
Craciunas L,Zdoukopoulos N,Vinayagam S,Mohiyiddeen L
Cochrane Database Syst Rev2022 Oct 6;10(10):CD008209.doi: 10.1002/14651858.CD008209.pub2.PMID:36200708Free PMC Article
Szczuko M,Kikut J,Komorniak N,Bilicki J,Celewicz Z,Ziętek M
Int J Mol Sci2020 Dec 17;21(24)doi: 10.3390/ijms21249628.PMID:33348841Free PMC Article
Yeganeh L,Boyle JA,Wood A,Teede H,Vincent AJ
Maturitas2019 Dec;130:21-31.Epub 2019 Sep 22doi: 10.1016/j.maturitas.2019.09.009.PMID:31706432
Marsden J,Marsh M,Rigg A;British Menopause Society
Post Reprod Health2019 Mar;25(1):21-32.Epub 2019 Feb 18doi: 10.1177/2053369118824920.PMID:30776968

Therapy

Vahabi Dastjerdi M,Sheibani S,Taheri M,Hezarcheshmeh FK,Jahangirian J,Jazayeri M,Hosseinirad H,Doohandeh T,Valizadeh R
Arch Gynecol Obstet2024 Jun;309(6):2323-2338.Epub 2024 Apr 8doi: 10.1007/s00404-024-07442-0.PMID:38589612
Su C,Zhang R,Zhang X,Lv M,Liu X,Ao K,Hao J,Mu YL
J Ethnopharmacol2023 Oct 28;315:116703.Epub 2023 May 29doi: 10.1016/j.jep.2023.116703.PMID:37257704
Craciunas L,Zdoukopoulos N,Vinayagam S,Mohiyiddeen L
Cochrane Database Syst Rev2022 Oct 6;10(10):CD008209.doi: 10.1002/14651858.CD008209.pub2.PMID:36200708Free PMC Article
Cai WY,Luo X,Wu W,Song J,Xie NN,Duan C,Wu XK,Xu J
J Ovarian Res2022 Sep 30;15(1):109.doi: 10.1186/s13048-022-01041-w.PMID:36180908Free PMC Article
Marsden J,Marsh M,Rigg A;British Menopause Society
Post Reprod Health2019 Mar;25(1):21-32.Epub 2019 Feb 18doi: 10.1177/2053369118824920.PMID:30776968

Prognosis

Najjarzadeha M,Mohammad-Alizadeh-Charandabi S,Abbasalizadeh S,Asghari-Jafarabadi M,Mirghafourvand M
BMC Pregnancy Childbirth2022 Nov 8;22(1):826.doi: 10.1186/s12884-022-05155-3.PMID:36348314Free PMC Article
Vogt EC,Breivik L,Røyrvik EC,Grytaas M,Husebye ES,Øksnes M
J Clin Endocrinol Metab2021 Jun 16;106(7):e2656-e2663.doi: 10.1210/clinem/dgab140.PMID:33686417Free PMC Article
Szczuko M,Kikut J,Komorniak N,Bilicki J,Celewicz Z,Ziętek M
Int J Mol Sci2020 Dec 17;21(24)doi: 10.3390/ijms21249628.PMID:33348841Free PMC Article
Young L,Cho L
Heart2019 Nov;105(21):1656-1660.Epub 2019 Jul 17doi: 10.1136/heartjnl-2018-314268.PMID:31315936
Qin Y,Jiao X,Simpson JL,Chen ZJ
Hum Reprod Update2015 Nov-Dec;21(6):787-808.Epub 2015 Aug 4doi: 10.1093/humupd/dmv036.PMID:26243799Free PMC Article

Clinical prediction guides

Su C,Zhang R,Zhang X,Lv M,Liu X,Ao K,Hao J,Mu YL
J Ethnopharmacol2023 Oct 28;315:116703.Epub 2023 May 29doi: 10.1016/j.jep.2023.116703.PMID:37257704
Szczuko M,Kikut J,Komorniak N,Bilicki J,Celewicz Z,Ziętek M
Int J Mol Sci2020 Dec 17;21(24)doi: 10.3390/ijms21249628.PMID:33348841Free PMC Article
Yeganeh L,Boyle JA,Wood A,Teede H,Vincent AJ
Maturitas2019 Dec;130:21-31.Epub 2019 Sep 22doi: 10.1016/j.maturitas.2019.09.009.PMID:31706432
Qin Y,Jiao X,Simpson JL,Chen ZJ
Hum Reprod Update2015 Nov-Dec;21(6):787-808.Epub 2015 Aug 4doi: 10.1093/humupd/dmv036.PMID:26243799Free PMC Article
Gleicher N,Barad D
Reprod Biomed Online2006 May;12(5):587-9.doi: 10.1016/s1472-6483(10)61184-4.PMID:16790102

Recent systematic reviews

Lensen S,Paramanandam VS,Gabes M,Kann G,Donhauser T,Waters NF,Li AD,Peate M,Susanto NS,Caughey LE,Rangoonwal F,Liu J,Condron P,Anagnostis P,Archer DF,Avis NE,Bell RJ,Carpenter JS,Chedraui P,Christmas M,Davies M,Hillard T,Hunter MS,Iliodromiti S,Jaff NG,Jaisamrarn U,Joffe H,Khandelwal S,Kiesel L,Maki PM,Mishra GD,Nappi RE,Panay N,Pines A,Roberts H,Rozenberg S,Rueda C,Shifren J,Simon JA,Simpson P,Siregar MFG,Stute P,Garcia JT,Vincent AJ,Wolfman W,Hickey M
Menopause2024 Jul 1;31(7):582-590.Epub 2024 Apr 30doi: 10.1097/GME.0000000000002370.PMID:38688464
Vahabi Dastjerdi M,Sheibani S,Taheri M,Hezarcheshmeh FK,Jahangirian J,Jazayeri M,Hosseinirad H,Doohandeh T,Valizadeh R
Arch Gynecol Obstet2024 Jun;309(6):2323-2338.Epub 2024 Apr 8doi: 10.1007/s00404-024-07442-0.PMID:38589612
Ding W,Xu Y,Kondracki AJ,Sun Y
Am J Obstet Gynecol2024 Mar;230(3):315-329.e31.Epub 2023 Oct 10doi: 10.1016/j.ajog.2023.10.005.PMID:37820985
Huang Y,Zhu M,Liu Z,Hu R,Li F,Song Y,Geng Y,Ma W,Song K,Zhang M
Front Immunol2022;13:997808.Epub 2022 Oct 27doi: 10.3389/fimmu.2022.997808.PMID:36389844Free PMC Article
Cai WY,Luo X,Wu W,Song J,Xie NN,Duan C,Wu XK,Xu J
J Ovarian Res2022 Sep 30;15(1):109.doi: 10.1186/s13048-022-01041-w.PMID:36180908Free PMC Article

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 theFAQ for details.

    Consumer resources

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • 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

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