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PREMATURE OVARIAN FAILURE 26(POF26)

MedGen UID:
1055279
•Concept ID:
CN378848
•
Disease or Syndrome
Synonym: POF26
 
Gene (location): MGA (15q15.1)
 
OMIM®: 621065

Definition

Premature ovarian failure-26 (POF26) is an autosomal dominant disorder characterized by reduced female fertility due to primary amenorrhea or early menopause (Tang et al., 2024). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Professional guidelines

PubMed

2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Tailoring therapies--improving the management of early breast cancer: St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2015.
Coates AS, Winer EP, Goldhirsch A, Gelber RD, Gnant M, Piccart-Gebhart M, Thürlimann B, Senn HJ; Panel Members
Ann Oncol 2015 Aug;26(8):1533-46. Epub 2015 May 4 doi: 10.1093/annonc/mdv221. PMID: 25939896Free PMC Article
Maximizing the clinical utility of antimüllerian hormone testing in women's health.
Leader B, Baker VL
Curr Opin Obstet Gynecol 2014 Aug;26(4):226-36. doi: 10.1097/GCO.0000000000000087. PMID: 24978853Free PMC Article

Recent clinical studies

Etiology

Mediterranean diet and female reproductive health over lifespan: a systematic review and meta-analysis.
Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
Perfluoroalkyl and polyfluoroalkyl substances (PFAS) and their effects on the ovary.
Ding N, Harlow SD, Randolph JF Jr, Loch-Caruso R, Park SK
Hum Reprod Update 2020 Sep 1;26(5):724-752. doi: 10.1093/humupd/dmaa018. PMID: 32476019Free PMC Article
Hormone Replacement Therapy in Cancer Survivors - Review of the Literature.
Deli T, Orosz M, Jakab A
Pathol Oncol Res 2020 Jan;26(1):63-78. Epub 2019 Jan 8 doi: 10.1007/s12253-018-00569-x. PMID: 30617760Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Osteoporosis and smoking.
Daniell HW
JAMA 1972 Jul 31;221(5):509. PMID: 5067964

Diagnosis

Ovarian Suppression: Early Menopause, Late Effects.
Goldberg C, Greenberg MR, Noveihed A, Agrawal L, Omene C, Toppmeyer D, George MA
Curr Oncol Rep 2024 May;26(5):427-438. Epub 2024 Jan 2 doi: 10.1007/s11912-023-01491-5. PMID: 38305992
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Luo W, Ke H, Tang S, Jiao X, Li Z, Zhao S, Zhang F, Guo T, Qin Y
J Ovarian Res 2023 Feb 15;16(1):39. doi: 10.1186/s13048-023-01104-6. PMID: 36793102Free PMC Article
Age at menopause and risk of heart failure and atrial fibrillation: a nationwide cohort study.
Shin J, Han K, Jung JH, Park HJ, Kim W, Huh Y, Kim YH, Kim DH, Kim SM, Choi YS, Cho KH, Nam GE
Eur Heart J 2022 Oct 21;43(40):4148-4157. doi: 10.1093/eurheartj/ehac364. PMID: 36239217
Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.
Xie C, Wang W, Tu C, Meng L, Lu G, Lin G, Lu LY, Tan YQ
Hum Reprod Update 2022 Nov 2;28(6):763-797. doi: 10.1093/humupd/dmac024. PMID: 35613017
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Therapy

Mediterranean diet and female reproductive health over lifespan: a systematic review and meta-analysis.
Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
Perfluoroalkyl and polyfluoroalkyl substances (PFAS) and their effects on the ovary.
Ding N, Harlow SD, Randolph JF Jr, Loch-Caruso R, Park SK
Hum Reprod Update 2020 Sep 1;26(5):724-752. doi: 10.1093/humupd/dmaa018. PMID: 32476019Free PMC Article
Hormone Replacement Therapy in Cancer Survivors - Review of the Literature.
Deli T, Orosz M, Jakab A
Pathol Oncol Res 2020 Jan;26(1):63-78. Epub 2019 Jan 8 doi: 10.1007/s12253-018-00569-x. PMID: 30617760Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Smoking and hormone-related disorders.
Spangler JG
Prim Care 1999 Sep;26(3):499-511. doi: 10.1016/s0095-4543(05)70114-7. PMID: 10436284

Prognosis

Mediterranean diet and female reproductive health over lifespan: a systematic review and meta-analysis.
Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Reproductive outcomes after hydatiform mole and gestational trophoblastic neoplasia.
Gadducci A, Lanfredini N, Cosio S
Gynecol Endocrinol 2015;31(9):673-8. Epub 2015 Aug 18 doi: 10.3109/09513590.2015.1054803. PMID: 26288335
Tailoring therapies--improving the management of early breast cancer: St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2015.
Coates AS, Winer EP, Goldhirsch A, Gelber RD, Gnant M, Piccart-Gebhart M, Thürlimann B, Senn HJ; Panel Members
Ann Oncol 2015 Aug;26(8):1533-46. Epub 2015 May 4 doi: 10.1093/annonc/mdv221. PMID: 25939896Free PMC Article
Menopausal hormone therapy (HT) in patients with breast cancer.
Batur P, Blixen CE, Moore HC, Thacker HL, Xu M
Maturitas 2006 Jan 20;53(2):123-32. doi: 10.1016/j.maturitas.2005.03.004. PMID: 16368466

Clinical prediction guides

Association between female-specific reproductive factors and leukocyte telomere length.
Fan G, Liu Q, Bi J, Qin X, Fang Q, Wang Y, Song L
Hum Reprod 2023 Nov 2;38(11):2239-2246. doi: 10.1093/humrep/dead176. PMID: 37671590
Mediterranean diet and female reproductive health over lifespan: a systematic review and meta-analysis.
Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.
Carlosama C, Elzaiat M, Patiño LC, Mateus HE, Veitia RA, Laissue P
Hum Mol Genet 2017 Aug 15;26(16):3161-3166. doi: 10.1093/hmg/ddx199. PMID: 28541421
Osteoporosis and smoking.
Daniell HW
JAMA 1972 Jul 31;221(5):509. PMID: 5067964

Recent systematic reviews

Mediterranean diet and female reproductive health over lifespan: a systematic review and meta-analysis.
Yang J, Song Y, Gaskins AJ, Li LJ, Huang Z, Eriksson JG, Hu FB, Chong YS, Zhang C
Am J Obstet Gynecol 2023 Dec;229(6):617-631. Epub 2023 Jul 26 doi: 10.1016/j.ajog.2023.05.030. PMID: 37506751
The global prevalence of premature ovarian insufficiency: a systematic review and meta-analysis.
Li M, Zhu Y, Wei J, Chen L, Chen S, Lai D
Climacteric 2023 Apr;26(2):95-102. Epub 2022 Dec 15 doi: 10.1080/13697137.2022.2153033. PMID: 36519275
Fresh and cryopreserved ovarian tissue transplantation for preserving reproductive and endocrine function: a systematic review and individual patient data meta-analysis.
Khattak H, Malhas R, Craciunas L, Afifi Y, Amorim CA, Fishel S, Silber S, Gook D, Demeestere I, Bystrova O, Lisyanskaya A, Manikhas G, Lotz L, Dittrich R, Colmorn LB, Macklon KT, Hjorth IMD, Kristensen SG, Gallos I, Coomarasamy A
Hum Reprod Update 2022 May 2;28(3):400-416. doi: 10.1093/humupd/dmac003. PMID: 35199164Free PMC Article
Pathways Involved in Premature Ovarian Failure: A Systematic Review of Experimental Studies.
Pargianas M, Salta S, Apostolopoulou K, Lazaros L, Kyrgiou M, Tinelli A, Malvasi A, Kalogiannidis I, Georgiou I, Kosmas IP
Curr Pharm Des 2020;26(18):2087-2095. doi: 10.2174/1381612826666200316160145. PMID: 32175834
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

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