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Premature ovarian failure 21(POF21)

MedGen UID:
1841035
•Concept ID:
C5830399
•
Disease or Syndrome
Synonym: POF21
 
Gene (location): 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). [from OMIM]

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.
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
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
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.
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

Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.
Zajicek M, Volodarsky-Perel A, Shai D, Dick-Necula D, Raanani H, Gruber N, Karplus G, Kassif E, Weisz B, Meirow D
Reprod Biomed Online 2023 Jul;47(1):102-109. Epub 2023 Mar 12 doi: 10.1016/j.rbmo.2023.03.004. PMID: 37120360
Long-term follow-up to assess criteria for ovarian tissue cryopreservation for fertility preservation in young women and girls with cancer.
Duffin K, Howie R, Kelsey TW, Wallace HB, Anderson RA
Hum Reprod 2023 Jun 1;38(6):1076-1085. doi: 10.1093/humrep/dead060. PMID: 37011633Free PMC Article
Investigation and treatment of premature ovarian insufficiency: A multi-disciplinary review of practice.
Richardson A, Haridass SA, Ward E, Ayres J, Baskind NE
Post Reprod Health 2018 Dec;24(4):155-162. Epub 2018 Nov 4 doi: 10.1177/2053369118811233. PMID: 30392440

Recent clinical studies

Etiology

Dingkun Pill modulate ovarian function in chemotherapy-induced premature ovarian insufficiency mice by regulating PTEN/PI3K/AKT/FOXO3a signaling pathway.
Su C, Zhang R, Zhang X, Lv M, Liu X, Ao K, Hao J, Mu YL
J Ethnopharmacol 2023 Oct 28;315:116703. Epub 2023 May 29 doi: 10.1016/j.jep.2023.116703. PMID: 37257704
Metabolic differences in women with premature ovarian insufficiency: a systematic review and meta-analysis.
Cai WY, Luo X, Wu W, Song J, Xie NN, Duan C, Wu XK, Xu J
J Ovarian Res 2022 Sep 30;15(1):109. doi: 10.1186/s13048-022-01041-w. PMID: 36180908Free 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
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
Gene variation and premature ovarian failure: a meta-analysis.
Pu D, Xing Y, Gao Y, Gu L, Wu J
Eur J Obstet Gynecol Reprod Biol 2014 Nov;182:226-37. Epub 2014 Oct 6 doi: 10.1016/j.ejogrb.2014.09.036. PMID: 25445105

Diagnosis

RNA N(6)-methyladenosine modification in female reproductive biology and pathophysiology.
Huang E, Chen L
Cell Commun Signal 2023 Mar 9;21(1):53. doi: 10.1186/s12964-023-01078-4. PMID: 36894952Free PMC Article
Plasma metabolomic characterization of premature ovarian insufficiency.
Zhou XY, Li X, Zhang J, Li Y, Wu XM, Yang YZ, Zhang XF, Ma LZ, Liu YD, Wang Z, Chen SL
J Ovarian Res 2023 Jan 5;16(1):2. doi: 10.1186/s13048-022-01085-y. PMID: 36600288Free 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
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
Menopause guideline appraisal and algorithm development for premature ovarian insufficiency.
Yeganeh L, Boyle JA, Wood A, Teede H, Vincent AJ
Maturitas 2019 Dec;130:21-31. Epub 2019 Sep 22 doi: 10.1016/j.maturitas.2019.09.009. PMID: 31706432

Therapy

Dingkun Pill modulate ovarian function in chemotherapy-induced premature ovarian insufficiency mice by regulating PTEN/PI3K/AKT/FOXO3a signaling pathway.
Su C, Zhang R, Zhang X, Lv M, Liu X, Ao K, Hao J, Mu YL
J Ethnopharmacol 2023 Oct 28;315:116703. Epub 2023 May 29 doi: 10.1016/j.jep.2023.116703. PMID: 37257704
Alpha-ketoglutarate ameliorates induced premature ovarian insufficiency in rats by inhibiting apoptosis and upregulating glycolysis.
Li T, Liu J, Liu K, Wang Q, Cao J, Xiao P, Yang W, Li X, Li J, Li M, Tang X, Li M, Zhang S, Lei X
Reprod Biomed Online 2023 Apr;46(4):673-685. Epub 2023 Jan 26 doi: 10.1016/j.rbmo.2023.01.005. PMID: 36894359
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
Metabolic differences in women with premature ovarian insufficiency: a systematic review and meta-analysis.
Cai WY, Luo X, Wu W, Song J, Xie NN, Duan C, Wu XK, Xu J
J Ovarian Res 2022 Sep 30;15(1):109. doi: 10.1186/s13048-022-01041-w. PMID: 36180908Free PMC Article
The Therapeutic Effect of Stem Cells on Chemotherapy-Induced Premature Ovarian Failure.
Chen H, Liu C, Zhu S, Li S, Zhang Q, Song L, Liang X
Curr Mol Med 2021;21(5):376-384. doi: 10.2174/1566524020666200905113907. PMID: 32888266Free PMC Article

Prognosis

Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.
Zajicek M, Volodarsky-Perel A, Shai D, Dick-Necula D, Raanani H, Gruber N, Karplus G, Kassif E, Weisz B, Meirow D
Reprod Biomed Online 2023 Jul;47(1):102-109. Epub 2023 Mar 12 doi: 10.1016/j.rbmo.2023.03.004. PMID: 37120360
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
miR-21 and Pellino-1 Expression Profiling in Autoimmune Premature Ovarian Insufficiency.
Li X, Xie J, Wang Q, Cai H, Xie C, Fu X
J Immunol Res 2020;2020:3582648. Epub 2020 Apr 13 doi: 10.1155/2020/3582648. PMID: 32352018Free PMC Article
Unique cardiovascular risk factors in women.
Young L, Cho L
Heart 2019 Nov;105(21):1656-1660. Epub 2019 Jul 17 doi: 10.1136/heartjnl-2018-314268. PMID: 31315936
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

Dingkun Pill modulate ovarian function in chemotherapy-induced premature ovarian insufficiency mice by regulating PTEN/PI3K/AKT/FOXO3a signaling pathway.
Su C, Zhang R, Zhang X, Lv M, Liu X, Ao K, Hao J, Mu YL
J Ethnopharmacol 2023 Oct 28;315:116703. Epub 2023 May 29 doi: 10.1016/j.jep.2023.116703. PMID: 37257704
Metabolic differences in women with premature ovarian insufficiency: a systematic review and meta-analysis.
Cai WY, Luo X, Wu W, Song J, Xie NN, Duan C, Wu XK, Xu J
J Ovarian Res 2022 Sep 30;15(1):109. doi: 10.1186/s13048-022-01041-w. PMID: 36180908Free PMC Article
Electroacupuncture May Inhibit Oxidative Stress of Premature Ovarian Failure Mice by Regulating Intestinal Microbiota.
Geng Z, Nie X, Ling L, Li B, Liu P, Yuan L, Zhang K, Liu T, Zhang B
Oxid Med Cell Longev 2022;2022:4362317. Epub 2022 Aug 30 doi: 10.1155/2022/4362317. PMID: 36082082Free 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
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

Early menopause and premature ovarian insufficiency are associated with increased risk of dementia: A systematic review and meta-analysis of observational studies.
Karamitrou EK, Anagnostis P, Vaitsi K, Athanasiadis L, Goulis DG
Maturitas 2023 Oct;176:107792. Epub 2023 Jun 23 doi: 10.1016/j.maturitas.2023.107792. PMID: 37393661
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
Metabolic differences in women with premature ovarian insufficiency: a systematic review and meta-analysis.
Cai WY, Luo X, Wu W, Song J, Xie NN, Duan C, Wu XK, Xu J
J Ovarian Res 2022 Sep 30;15(1):109. doi: 10.1186/s13048-022-01041-w. PMID: 36180908Free PMC Article
Cardiovascular disease risk in women with premature ovarian insufficiency: A systematic review and meta-analysis.
Roeters van Lennep JE, Heida KY, Bots ML, Hoek A; collaborators of the Dutch Multidisciplinary Guideline Development Group on Cardiovascular Risk Management after Reproductive Disorders
Eur J Prev Cardiol 2016 Jan;23(2):178-86. Epub 2014 Oct 20 doi: 10.1177/2047487314556004. PMID: 25331207

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