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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

Selecting the right treatment plan for schizophrenia in postmenopausal women: an update of the literature.
Seeman MV
Expert Rev Neurother 2023 Jun;23(6):515-523. Epub 2023 May 23 doi: 10.1080/14737175.2023.2215926. PMID: 37219412
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
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
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

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

Bone health in women with premature ovarian insufficiency/early menopause: a 23-year longitudinal analysis.
Jones AR, Enticott J, Ebeling PR, Mishra GD, Teede HT, Vincent AJ
Hum Reprod 2024 May 2;39(5):1013-1022. doi: 10.1093/humrep/deae037. PMID: 38396142Free PMC Article
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

Prognosis

Juvenile idiopathic arthritis and primary ovarian failure: a two-sample Mendelian randomization analysis in a mixed-gender cohort.
Mo Y, Shang A, Wei G, Xu D, Hou Y, Shao X, Yue C
Front Endocrinol (Lausanne) 2024;15:1340993. Epub 2024 May 16 doi: 10.3389/fendo.2024.1340993. PMID: 38818501Free PMC Article
Bone health in women with premature ovarian insufficiency/early menopause: a 23-year longitudinal analysis.
Jones AR, Enticott J, Ebeling PR, Mishra GD, Teede HT, Vincent AJ
Hum Reprod 2024 May 2;39(5):1013-1022. doi: 10.1093/humrep/deae037. PMID: 38396142Free PMC Article
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
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

Bone health in women with premature ovarian insufficiency/early menopause: a 23-year longitudinal analysis.
Jones AR, Enticott J, Ebeling PR, Mishra GD, Teede HT, Vincent AJ
Hum Reprod 2024 May 2;39(5):1013-1022. doi: 10.1093/humrep/deae037. PMID: 38396142Free PMC Article
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
Classification of Atretic Small Antral Follicles in the Human Ovary.
Wei F, Fan X, Del Valle JS, Asseler JD, van der Meeren LE, Cheng H, Roelen BAJ, Louwe LA, Pilgram GSK, van der Westerlaken LAJ, van Mello NM, Chuva de Sousa Lopes SM
Int J Mol Sci 2023 Nov 28;24(23) doi: 10.3390/ijms242316846. PMID: 38069168Free PMC Article
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

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 is associated with increased risk of heart failure and atrial fibrillation: A systematic review and meta-analysis.
Liu J, Jin X, Chen W, Wang L, Feng Z, Huang J
Maturitas 2023 Oct;176:107784. Epub 2023 Jun 7 doi: 10.1016/j.maturitas.2023.107784. PMID: 37454569
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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