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Premature ovarian failure 23(POF23)

MedGen UID:
1845723
•Concept ID:
C5882747
•
Disease or Syndrome
Synonym: POF23
 
Gene (location): MEIOB (16p13.3)
 
Monarch Initiative: MONDO:0958035
OMIM®: 620686

Definition

Premature ovarian failure-23 (POF23) is characterized by female infertility due to reduction of ovarian reserve. After normal menarche, patients experience oligomenorrhea and secondary amenorrhea (Caburet et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
Oligomenorrhea
MedGen UID:
18159
•Concept ID:
C0028949
•
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
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
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
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
Decreased cirrculating antimullerian hormone circulation
MedGen UID:
1391876
•Concept ID:
C4476972
•
Finding
A reduction below the normal range of the antimullerian hormone in the circulation.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Attitude and knowledge for menopause management among health professionals in mainland China.
Lin L, Feng P, Yu Q
Climacteric 2020 Dec;23(6):614-621. Epub 2020 Jun 16 doi: 10.1080/13697137.2020.1775809. PMID: 32543223
The British Menopause Society and Women's Health Concern recommendations on the management of women with premature ovarian insufficiency.
Hamoda H; British Menopause Society and Women’s Health Concern
Post Reprod Health 2017 Mar;23(1):22-35. doi: 10.1177/2053369117699358. PMID: 28381102
Management of premature ovarian failure.
Panay N, Kalu E
Best Pract Res Clin Obstet Gynaecol 2009 Feb;23(1):129-40. Epub 2008 Dec 16 doi: 10.1016/j.bpobgyn.2008.10.008. PMID: 19091633

Recent clinical studies

Etiology

Managing menopause after cancer.
Hickey M, Basu P, Sassarini J, Stegmann ME, Weiderpass E, Nakawala Chilowa K, Yip CH, Partridge AH, Brennan DJ
Lancet 2024 Mar 9;403(10430):984-996. Epub 2024 Mar 5 doi: 10.1016/S0140-6736(23)02802-7. PMID: 38458217
Optimising health after early menopause.
Mishra GD, Davies MC, Hillman S, Chung HF, Roy S, Maclaran K, Hickey M
Lancet 2024 Mar 9;403(10430):958-968. Epub 2024 Mar 5 doi: 10.1016/S0140-6736(23)02800-3. PMID: 38458215
Women, lipids, and atherosclerotic cardiovascular disease: a call to action from the European Atherosclerosis Society.
Roeters van Lennep JE, Tokgözoğlu LS, Badimon L, Dumanski SM, Gulati M, Hess CN, Holven KB, Kavousi M, Kayıkçıoğlu M, Lutgens E, Michos ED, Prescott E, Stock JK, Tybjaerg-Hansen A, Wermer MJH, Benn M
Eur Heart J 2023 Oct 14;44(39):4157-4173. doi: 10.1093/eurheartj/ehad472. PMID: 37611089Free PMC Article
Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free PMC Article
Fertility preservation in women.
Donnez J, Dolmans MM
Nat Rev Endocrinol 2013 Dec;9(12):735-49. Epub 2013 Oct 29 doi: 10.1038/nrendo.2013.205. PMID: 24166000

Diagnosis

Managing menopause after cancer.
Hickey M, Basu P, Sassarini J, Stegmann ME, Weiderpass E, Nakawala Chilowa K, Yip CH, Partridge AH, Brennan DJ
Lancet 2024 Mar 9;403(10430):984-996. Epub 2024 Mar 5 doi: 10.1016/S0140-6736(23)02802-7. PMID: 38458217
Optimising health after early menopause.
Mishra GD, Davies MC, Hillman S, Chung HF, Roy S, Maclaran K, Hickey M
Lancet 2024 Mar 9;403(10430):958-968. Epub 2024 Mar 5 doi: 10.1016/S0140-6736(23)02800-3. PMID: 38458215
Women, lipids, and atherosclerotic cardiovascular disease: a call to action from the European Atherosclerosis Society.
Roeters van Lennep JE, Tokgözoğlu LS, Badimon L, Dumanski SM, Gulati M, Hess CN, Holven KB, Kavousi M, Kayıkçıoğlu M, Lutgens E, Michos ED, Prescott E, Stock JK, Tybjaerg-Hansen A, Wermer MJH, Benn M
Eur Heart J 2023 Oct 14;44(39):4157-4173. doi: 10.1093/eurheartj/ehad472. PMID: 37611089Free PMC Article
Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free 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

Therapy

FGF2 Rescued Cisplatin-Injured Granulosa Cells through the NRF2-Autophagy Pathway.
Wang L, Cheng F, Pan R, Cui Z, She J, Zhang Y, Yang X
Int J Mol Sci 2023 Sep 18;24(18) doi: 10.3390/ijms241814215. PMID: 37762517Free 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
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
Systemic lupus erythematosus and menopause.
Gompel A
Climacteric 2020 Apr;23(2):109-115. Epub 2019 Oct 28 doi: 10.1080/13697137.2019.1679113. PMID: 31657240
A general description for Chinese medicine in treating premature ovarian failure.
Lin J, Li XL, Song H, Li Q, Wang MY, Qiu XM, Li DJ, Wang L
Chin J Integr Med 2017 Feb;23(2):91-97. Epub 2017 Mar 7 doi: 10.1007/s11655-016-2642-7. PMID: 28265850

Prognosis

Women, lipids, and atherosclerotic cardiovascular disease: a call to action from the European Atherosclerosis Society.
Roeters van Lennep JE, Tokgözoğlu LS, Badimon L, Dumanski SM, Gulati M, Hess CN, Holven KB, Kavousi M, Kayıkçıoğlu M, Lutgens E, Michos ED, Prescott E, Stock JK, Tybjaerg-Hansen A, Wermer MJH, Benn M
Eur Heart J 2023 Oct 14;44(39):4157-4173. doi: 10.1093/eurheartj/ehad472. PMID: 37611089Free PMC Article
Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free PMC Article
Beyond Premature Ovarian Insufficiency: Staging Reproductive Aging in Adolescent and Young Adult Cancer Survivors.
Medica ACO, Whitcomb BW, Shliakhsitsava K, Dietz AC, Pinson K, Lam C, Romero SAD, Sluss P, Sammel MD, Su HI
J Clin Endocrinol Metab 2021 Jan 23;106(2):e1002-e1013. doi: 10.1210/clinem/dgaa797. PMID: 33141175Free 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
Systemic lupus erythematosus and menopause.
Gompel A
Climacteric 2020 Apr;23(2):109-115. Epub 2019 Oct 28 doi: 10.1080/13697137.2019.1679113. PMID: 31657240

Clinical prediction guides

Eif4enif1 haploinsufficiency disrupts oocyte mitochondrial dynamics and leads to subfertility.
Ding Y, He Z, Sha Y, Kee K, Li L
Development 2023 Dec 1;150(23) Epub 2023 Dec 13 doi: 10.1242/dev.202151. PMID: 38088064
Autoimmune polyglandular syndrome type 4: experience from a single reference center.
Gatta E, Anelli V, Cimino E, Di Lodovico E, Piovani E, Zammarchi I, Gozzoli G, Maltese V, Cavadini M, Agosti B, Delbarba A, Pirola I, Girelli A, Buoso C, Bambini F, Alfieri D, Bremi W, Facondo P, Lupo R, Bezzi F, Fredi M, Mazzola AM, Gandossi E, Saullo M, Marini F, Licini M, Pezzaioli LC, Pini L, Franceschini F, Ricci C, Cappelli C
Front Endocrinol (Lausanne) 2023;14:1236878. Epub 2023 Oct 23 doi: 10.3389/fendo.2023.1236878. PMID: 37937054Free PMC Article
Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free 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
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

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 may increase the risk of sarcopenia: A systematic review and meta-analysis.
Divaris E, Anagnostis P, Gkekas NK, Kouidi E, Goulis DG
Maturitas 2023 Sep;175:107782. Epub 2023 Jun 7 doi: 10.1016/j.maturitas.2023.05.006. PMID: 37331156
Anti-Müllerian hormone for the diagnosis and prediction of menopause: a systematic review.
Nelson SM, Davis SR, Kalantaridou S, Lumsden MA, Panay N, Anderson RA
Hum Reprod Update 2023 May 2;29(3):327-346. doi: 10.1093/humupd/dmac045. PMID: 36651193Free 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
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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