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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
Premature menopause management.
Hague WM
Aust Fam Physician 1992 Mar;21(3):252-4. PMID: 1605764

Recent clinical studies

Etiology

The Effect of Menopause and Menopausal Hormone Therapy on the Risk of Peripheral Artery Disease.
Anagnostis P, Mikhailidis DP, Blinc A, Jensterle M, Ježovnik MK, Schernthaner GH, Antignani PL, Studen KB, Šabović M, Poredos P
Curr Vasc Pharmacol 2023;21(5):293-296. doi: 10.2174/0115701611263345230919122907. PMID: 37779405
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
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
Premature menopause and psychological well-being.
Liao KL, Wood N, Conway GS
J Psychosom Obstet Gynaecol 2000 Sep;21(3):167-74. doi: 10.3109/01674820009075624. PMID: 11076338
Side-effects of intravenous cyclophosphamide pulse therapy.
Martin F, Lauwerys B, Lefèbvre C, Devogelaer JP, Houssiau FA
Lupus 1997;6(3):254-7. doi: 10.1177/096120339700600307. PMID: 9104732

Diagnosis

The Effect of Menopause and Menopausal Hormone Therapy on the Risk of Peripheral Artery Disease.
Anagnostis P, Mikhailidis DP, Blinc A, Jensterle M, Ježovnik MK, Schernthaner GH, Antignani PL, Studen KB, Šabović M, Poredos P
Curr Vasc Pharmacol 2023;21(5):293-296. doi: 10.2174/0115701611263345230919122907. PMID: 37779405
Primary Ovarian Insufficiency in Women With Addison's Disease.
Vogt EC, Breivik L, Røyrvik EC, Grytaas M, Husebye ES, Øksnes M
J Clin Endocrinol Metab 2021 Jun 16;106(7):e2656-e2663. doi: 10.1210/clinem/dgab140. PMID: 33686417Free 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
British Menopause Society consensus statement on the management of estrogen deficiency symptoms, arthralgia and menopause diagnosis in women treated for early breast cancer.
Marsden J, Marsh M, Rigg A; British Menopause Society
Post Reprod Health 2019 Mar;25(1):21-32. Epub 2019 Feb 18 doi: 10.1177/2053369118824920. PMID: 30776968
Premature menopause and psychological well-being.
Liao KL, Wood N, Conway GS
J Psychosom Obstet Gynaecol 2000 Sep;21(3):167-74. doi: 10.3109/01674820009075624. PMID: 11076338

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
British Menopause Society consensus statement on the management of estrogen deficiency symptoms, arthralgia and menopause diagnosis in women treated for early breast cancer.
Marsden J, Marsh M, Rigg A; British Menopause Society
Post Reprod Health 2019 Mar;25(1):21-32. Epub 2019 Feb 18 doi: 10.1177/2053369118824920. PMID: 30776968
Journey through the clinics - The experience of a woman with BRCA2.
Abernethy K
Post Reprod Health 2015 Dec;21(4):158-60. doi: 10.1177/2053369115611015. PMID: 26612439
Hypergonadotropic forms of amenorrhea in young women.
Rebar RW, Cedars MI
Endocrinol Metab Clin North Am 1992 Mar;21(1):173-91. PMID: 1576980
Estrogen therapy and variable-resistance weight training increase bone mineral in surgically menopausal women.
Notelovitz M, Martin D, Tesar R, Khan FY, Probart C, Fields C, McKenzie L
J Bone Miner Res 1991 Jun;6(6):583-90. doi: 10.1002/jbmr.5650060609. PMID: 1887821

Prognosis

Primary Ovarian Insufficiency in Women With Addison's Disease.
Vogt EC, Breivik L, Røyrvik EC, Grytaas M, Husebye ES, Øksnes M
J Clin Endocrinol Metab 2021 Jun 16;106(7):e2656-e2663. doi: 10.1210/clinem/dgab140. PMID: 33686417Free 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
Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.
Zhang D, Liu Y, Zhang Z, Lv P, Liu Y, Li J, Wu Y, Zhang R, Huang Y, Xu G, Qian Y, Qian Y, Chen S, Xu C, Shen J, Zhu L, Chen K, Zhu B, Ye X, Mao Y, Bo X, Zhou C, Wang T, Chen D, Yang W, Tan Y, Song Y, Zhou D, Sheng J, Gao H, Zhu Y, Li M, Wu L, He L, Huang H
Hum Mol Genet 2018 Nov 1;27(21):3787-3800. doi: 10.1093/hmg/ddy261. PMID: 30010909
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
Side-effects of intravenous cyclophosphamide pulse therapy.
Martin F, Lauwerys B, Lefèbvre C, Devogelaer JP, Houssiau FA
Lupus 1997;6(3):254-7. doi: 10.1177/096120339700600307. PMID: 9104732

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
Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.
Zhang D, Liu Y, Zhang Z, Lv P, Liu Y, Li J, Wu Y, Zhang R, Huang Y, Xu G, Qian Y, Qian Y, Chen S, Xu C, Shen J, Zhu L, Chen K, Zhu B, Ye X, Mao Y, Bo X, Zhou C, Wang T, Chen D, Yang W, Tan Y, Song Y, Zhou D, Sheng J, Gao H, Zhu Y, Li M, Wu L, He L, Huang H
Hum Mol Genet 2018 Nov 1;27(21):3787-3800. doi: 10.1093/hmg/ddy261. PMID: 30010909
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
An evolutionary concept of polycystic ovarian disease: does evolution favour reproductive success over survival?
Gleicher N, Barad D
Reprod Biomed Online 2006 May;12(5):587-9. doi: 10.1016/s1472-6483(10)61184-4. PMID: 16790102
Side-effects of intravenous cyclophosphamide pulse therapy.
Martin F, Lauwerys B, Lefèbvre C, Devogelaer JP, Houssiau FA
Lupus 1997;6(3):254-7. doi: 10.1177/096120339700600307. PMID: 9104732

Recent systematic reviews

Childhood adversity and accelerated reproductive events: a systematic review and meta-analysis.
Ding W, Xu Y, Kondracki AJ, Sun Y
Am J Obstet Gynecol 2024 Mar;230(3):315-329.e31. Epub 2023 Oct 10 doi: 10.1016/j.ajog.2023.10.005. PMID: 37820985
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

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