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Premature ovarian failure 24(POF24)

MedGen UID:
1858807
•Concept ID:
C5935624
•
Disease or Syndrome
Synonyms: POF24; PREMATURE OVARIAN FAILURE 24
 
Gene (location): SYCP2L (6p24.2)
 
Monarch Initiative: MONDO:0970995
OMIM®: 620840

Definition

Premature ovarian failure-24 (POF24) is characterized by the development of secondary amenorrhea in the fourth decade of life, with a dearth of antral follicles detected on ultrasound. Patients may experience subfertility or infertility (He et al., 2021). 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
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
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
Elevated circulating luteinizing hormone level
MedGen UID:
868698
•Concept ID:
C4023101
•
Finding
An elevated concentration of luteinizing hormone in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Fertility Preservation in Cervical Cancer-Treatment Strategies and Indications.
Salman L, Covens A
Curr Oncol 2024 Jan 4;31(1):296-306. doi: 10.3390/curroncol31010019. PMID: 38248104Free PMC Article
Progress in understanding and management of premature ovarian insufficiency.
Panay N
Climacteric 2021 Oct;24(5):423-424. doi: 10.1080/13697137.2021.1919460. PMID: 34498504
Premature ovarian insufficiency: a toolkit for the primary care physician.
Lambrinoudaki I, Paschou SA, Lumsden MA, Faubion S, Makrakis E, Kalantaridou S, Panay N
Climacteric 2021 Oct;24(5):425-437. Epub 2021 Jan 12 doi: 10.1080/13697137.2020.1859246. PMID: 33434082

Recent clinical studies

Etiology

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
Fertility Preservation in Cervical Cancer-Treatment Strategies and Indications.
Salman L, Covens A
Curr Oncol 2024 Jan 4;31(1):296-306. doi: 10.3390/curroncol31010019. PMID: 38248104Free PMC Article
Cognitive Decline in Early and Premature Menopause.
Sochocka M, Karska J, Pszczołowska M, Ochnik M, Fułek M, Fułek K, Kurpas D, Chojdak-Łukasiewicz J, Rosner-Tenerowicz A, Leszek J
Int J Mol Sci 2023 Mar 31;24(7) doi: 10.3390/ijms24076566. PMID: 37047549Free 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
Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease.
Honigberg MC, Zekavat SM, Aragam K, Finneran P, Klarin D, Bhatt DL, Januzzi JL Jr, Scott NS, Natarajan P
JAMA 2019 Dec 24;322(24):2411-2421. doi: 10.1001/jama.2019.19191. PMID: 31738818Free PMC Article

Diagnosis

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
Fertility Preservation in Cervical Cancer-Treatment Strategies and Indications.
Salman L, Covens A
Curr Oncol 2024 Jan 4;31(1):296-306. doi: 10.3390/curroncol31010019. PMID: 38248104Free 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
Genetics in human reproduction.
Rodrigues VO, Polisseni F, Pannain GD, Carvalho MAG
JBRA Assist Reprod 2020 Oct 6;24(4):480-491. doi: 10.5935/1518-0557.20200007. PMID: 32293822Free PMC Article
Age at menopause of HIV-infected women: a review.
Conde DM, Pinto-Neto AM, Costa-Paiva L
Gynecol Endocrinol 2008 Feb;24(2):84-6. doi: 10.1080/09513590701806870. PMID: 18210331

Therapy

Efficacy of intra-ovarian injection of autologous platelet-rich plasma in women with poor responders: a systematic review and meta-analysis.
Vahabi Dastjerdi M, Sheibani S, Taheri M, Hezarcheshmeh FK, Jahangirian J, Jazayeri M, Hosseinirad H, Doohandeh T, Valizadeh R
Arch Gynecol Obstet 2024 Jun;309(6):2323-2338. Epub 2024 Apr 8 doi: 10.1007/s00404-024-07442-0. PMID: 38589612
Intraovarian platelet-rich plasma injection and IVF outcomes in patients with poor ovarian response: a double-blind randomized controlled trial.
Barrenetxea G, Celis R, Barrenetxea J, Martínez E, De Las Heras M, Gómez O, Aguirre O
Hum Reprod 2024 Apr 3;39(4):760-769. doi: 10.1093/humrep/deae038. PMID: 38423539
Cognitive Decline in Early and Premature Menopause.
Sochocka M, Karska J, Pszczołowska M, Ochnik M, Fułek M, Fułek K, Kurpas D, Chojdak-Łukasiewicz J, Rosner-Tenerowicz A, Leszek J
Int J Mol Sci 2023 Mar 31;24(7) doi: 10.3390/ijms24076566. PMID: 37047549Free PMC Article
Genetics in human reproduction.
Rodrigues VO, Polisseni F, Pannain GD, Carvalho MAG
JBRA Assist Reprod 2020 Oct 6;24(4):480-491. doi: 10.5935/1518-0557.20200007. PMID: 32293822Free PMC Article
Tales from the menopause clinic.
Gray S
Post Reprod Health 2018 Sep;24(3):141-142. doi: 10.1177/2053369118799706. PMID: 30244641

Prognosis

Prediction of premature ovarian insufficiency: foolish fallacy or feasible foresight?
Nelson SM, Anderson RA
Climacteric 2021 Oct;24(5):438-443. Epub 2021 Jan 31 doi: 10.1080/13697137.2020.1868426. PMID: 33522318
Young women's opinions on the use of a blood test to predict the possibility of premature ovarian failure: a qualitative study.
Grootenhuis A, van den Hoogen A, Broekmans F, Torrance H, van Os-Medendorp H, Ockhuijsen H
Hum Fertil (Camb) 2021 Oct;24(4):304-314. Epub 2019 Sep 18 doi: 10.1080/14647273.2019.1665198. PMID: 31530237
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
Association of Premature Natural and Surgical Menopause With Incident Cardiovascular Disease.
Honigberg MC, Zekavat SM, Aragam K, Finneran P, Klarin D, Bhatt DL, Januzzi JL Jr, Scott NS, Natarajan P
JAMA 2019 Dec 24;322(24):2411-2421. doi: 10.1001/jama.2019.19191. PMID: 31738818Free PMC Article
Infertility and premature menopause in childhood cancer survivors.
Byrne J
Med Pediatr Oncol 1999 Jul;33(1):24-8. doi: 10.1002/(sici)1096-911x(199907)33:1<24::aid-mpo5>3.0.co;2-k. PMID: 10401493

Clinical prediction guides

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
Age at menopause and all-cause and cause-specific dementia: a prospective analysis of the UK Biobank cohort.
Hao W, Fu C, Dong C, Zhou C, Sun H, Xie Z, Zhu D
Hum Reprod 2023 Sep 5;38(9):1746-1754. doi: 10.1093/humrep/dead130. PMID: 37344154Free PMC Article
Prediction of premature ovarian insufficiency: foolish fallacy or feasible foresight?
Nelson SM, Anderson RA
Climacteric 2021 Oct;24(5):438-443. Epub 2021 Jan 31 doi: 10.1080/13697137.2020.1868426. PMID: 33522318
Young women's opinions on the use of a blood test to predict the possibility of premature ovarian failure: a qualitative study.
Grootenhuis A, van den Hoogen A, Broekmans F, Torrance H, van Os-Medendorp H, Ockhuijsen H
Hum Fertil (Camb) 2021 Oct;24(4):304-314. Epub 2019 Sep 18 doi: 10.1080/14647273.2019.1665198. PMID: 31530237
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

Recent systematic reviews

Efficacy of intra-ovarian injection of autologous platelet-rich plasma in women with poor responders: a systematic review and meta-analysis.
Vahabi Dastjerdi M, Sheibani S, Taheri M, Hezarcheshmeh FK, Jahangirian J, Jazayeri M, Hosseinirad H, Doohandeh T, Valizadeh R
Arch Gynecol Obstet 2024 Jun;309(6):2323-2338. Epub 2024 Apr 8 doi: 10.1007/s00404-024-07442-0. PMID: 38589612
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
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
Women's experience of menopause: a systematic review of qualitative evidence.
Hoga L, Rodolpho J, Gonçalves B, Quirino B
JBI Database System Rev Implement Rep 2015 Sep 16;13(8):250-337. doi: 10.11124/jbisrir-2015-1948. PMID: 26455946
Adjuvant gonadotropin-releasing hormone analogues for the prevention of chemotherapy induced premature ovarian failure in premenopausal women.
Chen H, Li J, Cui T, Hu L
Cochrane Database Syst Rev 2011 Nov 9;(11):CD008018. doi: 10.1002/14651858.CD008018.pub2. PMID: 22071842

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