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PREMATURE OVARIAN FAILURE 25(POF25)

MedGen UID:
1056645
•Concept ID:
CN378689
•
Disease or Syndrome
Synonym: POF25
 
OMIM®: 621002

Definition

Premature ovarian failure-25 (POF25) is an autosomal recessive disorder characterized by irregular menses followed by early menopause. Ovaries appear atrophic on ultrasound, with few to no follicles (Yao et al., 2022). 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
Long-term risk of second malignancy and cardiovascular disease after Hodgkin lymphoma treatment.
van Leeuwen FE, Ng AK
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):323-330. doi: 10.1182/asheducation-2016.1.323. PMID: 27913498Free PMC Article
Diagnosis and management of osteoporosis.
Ralston SH, Fraser J
Practitioner 2015 Dec;259(1788):15-9, 2. PMID: 26882774

Recent clinical studies

Etiology

Ovarian response to intraovarian platelet-rich plasma (PRP) administration: hypotheses and potential mechanisms of action.
Seckin S, Ramadan H, Mouanness M, Kohansieh M, Merhi Z
J Assist Reprod Genet 2022 Jan;39(1):37-61. Epub 2022 Feb 17 doi: 10.1007/s10815-021-02385-w. PMID: 35175511Free PMC Article
Ovarian Reserve Markers in Premature Ovarian Insufficiency: Within Different Clinical Stages and Different Etiologies.
Jiao X, Meng T, Zhai Y, Zhao L, Luo W, Liu P, Qin Y
Front Endocrinol (Lausanne) 2021;12:601752. Epub 2021 Mar 18 doi: 10.3389/fendo.2021.601752. PMID: 33815272Free PMC Article
Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.
Szeliga A, Calik-Ksepka A, Maciejewska-Jeske M, Grymowicz M, Smolarczyk K, Kostrzak A, Smolarczyk R, Rudnicka E, Meczekalski B
Int J Mol Sci 2021 Mar 5;22(5) doi: 10.3390/ijms22052594. PMID: 33807517Free 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
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319

Diagnosis

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
Ovarian Reserve Markers in Premature Ovarian Insufficiency: Within Different Clinical Stages and Different Etiologies.
Jiao X, Meng T, Zhai Y, Zhao L, Luo W, Liu P, Qin Y
Front Endocrinol (Lausanne) 2021;12:601752. Epub 2021 Mar 18 doi: 10.3389/fendo.2021.601752. PMID: 33815272Free PMC Article
Reproductive Complications in Childhood Cancer Survivors.
van Santen HM, van de Wetering MD, Bos AME, Vd Heuvel-Eibrink MM, van der Pal HJ, Wallace WH
Pediatr Clin North Am 2020 Dec;67(6):1187-1202. doi: 10.1016/j.pcl.2020.08.003. PMID: 33131541
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
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319

Therapy

Association between ovarian reserve and spontaneous miscarriage and their shared genetic architecture.
Yi Y, Fu J, Xie S, Zhang Q, Xu B, Wang Y, Wang Y, Li B, Zhao G, Li J, Li Y, Zhao J
Hum Reprod 2023 Nov 2;38(11):2247-2258. doi: 10.1093/humrep/dead180. PMID: 37713654
Ovarian response to intraovarian platelet-rich plasma (PRP) administration: hypotheses and potential mechanisms of action.
Seckin S, Ramadan H, Mouanness M, Kohansieh M, Merhi Z
J Assist Reprod Genet 2022 Jan;39(1):37-61. Epub 2022 Feb 17 doi: 10.1007/s10815-021-02385-w. PMID: 35175511Free PMC Article
Reproductive Complications in Childhood Cancer Survivors.
van Santen HM, van de Wetering MD, Bos AME, Vd Heuvel-Eibrink MM, van der Pal HJ, Wallace WH
Pediatr Clin North Am 2020 Dec;67(6):1187-1202. doi: 10.1016/j.pcl.2020.08.003. PMID: 33131541
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
Fertility after breast cancer treatment.
Kasum M, Beketić-Orešković L, Peddi PF, Orešković S, Johnson RH
Eur J Obstet Gynecol Reprod Biol 2014 Feb;173:13-8. Epub 2013 Nov 17 doi: 10.1016/j.ejogrb.2013.11.009. PMID: 24315568

Prognosis

Association between ovarian reserve and spontaneous miscarriage and their shared genetic architecture.
Yi Y, Fu J, Xie S, Zhang Q, Xu B, Wang Y, Wang Y, Li B, Zhao G, Li J, Li Y, Zhao J
Hum Reprod 2023 Nov 2;38(11):2247-2258. doi: 10.1093/humrep/dead180. PMID: 37713654
Ovarian Reserve Markers in Premature Ovarian Insufficiency: Within Different Clinical Stages and Different Etiologies.
Jiao X, Meng T, Zhai Y, Zhao L, Luo W, Liu P, Qin Y
Front Endocrinol (Lausanne) 2021;12:601752. Epub 2021 Mar 18 doi: 10.3389/fendo.2021.601752. PMID: 33815272Free 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
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
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

Association between ovarian reserve and spontaneous miscarriage and their shared genetic architecture.
Yi Y, Fu J, Xie S, Zhang Q, Xu B, Wang Y, Wang Y, Li B, Zhao G, Li J, Li Y, Zhao J
Hum Reprod 2023 Nov 2;38(11):2247-2258. doi: 10.1093/humrep/dead180. PMID: 37713654
Ovarian Reserve Markers in Premature Ovarian Insufficiency: Within Different Clinical Stages and Different Etiologies.
Jiao X, Meng T, Zhai Y, Zhao L, Luo W, Liu P, Qin Y
Front Endocrinol (Lausanne) 2021;12:601752. Epub 2021 Mar 18 doi: 10.3389/fendo.2021.601752. PMID: 33815272Free 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
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
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

Efficacy of natural products on premature ovarian failure: a systematic review and meta-analysis of preclinical studies.
Hu H, Zhang J, Xin X, Jin Y, Zhu Y, Zhang H, Fan R, Ye Y, Li D
J Ovarian Res 2024 Feb 20;17(1):46. doi: 10.1186/s13048-024-01369-5. PMID: 38378652Free PMC Article
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
Vaginal Fluid Urea and Creatinine as Indicators of Premature Rupture of Membranes: a Systematic Review.
Malchi F, Abedi P, Jahanfar S, Talebi F, Faal S, Zahedian M
Reprod Sci 2021 Jan;28(1):1-11. Epub 2020 Jul 27 doi: 10.1007/s43032-020-00271-x. PMID: 32720249
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
Hemostasis During Ovarian Cystectomy: Systematic Review of the Impact of Suturing Versus Surgical Energy on Ovarian Function.
Peters A, Rindos NB, Lee T
J Minim Invasive Gynecol 2017 Feb;24(2):235-246. Epub 2016 Dec 21 doi: 10.1016/j.jmig.2016.12.009. PMID: 28011097

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