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Premature ovarian failure 11(POF11)

MedGen UID:
934750
•Concept ID:
C4310783
•
Disease or Syndrome
Synonym: POF11
 
Gene (location): ERCC6 (10q11.23)
 
Monarch Initiative: MONDO:0014843
OMIM®: 616946

Definition

Premature ovarian failure-11 (POF11) is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone (FSH; see 136530) levels before age 40 years (Qin et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Clinical features

From HPO
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
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
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Professional guidelines

PubMed

Treatment with Gonadotropin Releasing Hormone Agonists in Systemic Lupus Erythematosus Patients Receiving Cyclophosphamide: A Long-term Follow-up Study.
Orefice V, Ceccarelli F, Perrone G, Perricone C, Galoppi P, Pacucci VA, Spinelli FR, Alessandri C, Brunelli R, Conti F
Isr Med Assoc J 2020 Jun;22(6):343-347. PMID: 32558438

Recent clinical studies

Etiology

Menopausal hormone therapy and risk for dementia in women with CKD: A nationwide observational cohort study.
Huh H, Kim M, Jung S, Cho JM, Kim SG, Park S, Lee S, Kang E, Kim Y, Kim DK, Joo KW, Han K, Cho S
Nephrology (Carlton) 2024 Mar;29(3):126-134. Epub 2023 Dec 13 doi: 10.1111/nep.14260. PMID: 38092706
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
Molecular Genetics of Premature Ovarian Insufficiency.
Jiao X, Ke H, Qin Y, Chen ZJ
Trends Endocrinol Metab 2018 Nov;29(11):795-807. Epub 2018 Aug 2 doi: 10.1016/j.tem.2018.07.002. PMID: 30078697
Update in hyper- and hypogonadotropic amenorrhea.
Santoro N
J Clin Endocrinol Metab 2011 Nov;96(11):3281-8. doi: 10.1210/jc.2011-1419. PMID: 22058375
Fertility and ageing.
Baird DT, Collins J, Egozcue J, Evers LH, Gianaroli L, Leridon H, Sunde A, Templeton A, Van Steirteghem A, Cohen J, Crosignani PG, Devroey P, Diedrich K, Fauser BC, Fraser L, Glasier A, Liebaers I, Mautone G, Penney G, Tarlatzis B; ESHRE Capri Workshop Group
Hum Reprod Update 2005 May-Jun;11(3):261-76. Epub 2005 Apr 14 doi: 10.1093/humupd/dmi006. PMID: 15831503

Diagnosis

Menopausal hormone therapy and risk for dementia in women with CKD: A nationwide observational cohort study.
Huh H, Kim M, Jung S, Cho JM, Kim SG, Park S, Lee S, Kang E, Kim Y, Kim DK, Joo KW, Han K, Cho S
Nephrology (Carlton) 2024 Mar;29(3):126-134. Epub 2023 Dec 13 doi: 10.1111/nep.14260. PMID: 38092706
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
Primary Ovarian Insufficiency in Women With Addison's Disease.
Vogt EC, Breivik L, Røyrvik EC, Grytaas M, Husebye ES, Øksnes M
J Clin Endocrinol Metab 2021 Jun 16;106(7):e2656-e2663. doi: 10.1210/clinem/dgab140. PMID: 33686417Free PMC Article
What Is the Best Regimen for Ovarian Stimulation of Poor Responders in ART/IVF?
Blumenfeld Z
Front Endocrinol (Lausanne) 2020;11:192. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00192. PMID: 32362870Free PMC Article
Current concepts in premature ovarian insufficiency.
Maclaran K, Panay N
Womens Health (Lond) 2015 Mar;11(2):169-82. doi: 10.2217/whe.14.82. PMID: 25776291

Therapy

Menopausal hormone therapy and risk for dementia in women with CKD: A nationwide observational cohort study.
Huh H, Kim M, Jung S, Cho JM, Kim SG, Park S, Lee S, Kang E, Kim Y, Kim DK, Joo KW, Han K, Cho S
Nephrology (Carlton) 2024 Mar;29(3):126-134. Epub 2023 Dec 13 doi: 10.1111/nep.14260. PMID: 38092706
What Is the Best Regimen for Ovarian Stimulation of Poor Responders in ART/IVF?
Blumenfeld Z
Front Endocrinol (Lausanne) 2020;11:192. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00192. PMID: 32362870Free PMC Article
Current concepts in premature ovarian insufficiency.
Maclaran K, Panay N
Womens Health (Lond) 2015 Mar;11(2):169-82. doi: 10.2217/whe.14.82. PMID: 25776291
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
A review of late effects of cancer in women.
Dow KH
Semin Oncol Nurs 1995 May;11(2):128-36. doi: 10.1016/s0749-2081(05)80020-8. PMID: 7604191

Prognosis

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
Primary Ovarian Insufficiency in Women With Addison's Disease.
Vogt EC, Breivik L, Røyrvik EC, Grytaas M, Husebye ES, Øksnes M
J Clin Endocrinol Metab 2021 Jun 16;106(7):e2656-e2663. doi: 10.1210/clinem/dgab140. PMID: 33686417Free 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
Molecular Genetics of Premature Ovarian Insufficiency.
Jiao X, Ke H, Qin Y, Chen ZJ
Trends Endocrinol Metab 2018 Nov;29(11):795-807. Epub 2018 Aug 2 doi: 10.1016/j.tem.2018.07.002. PMID: 30078697
Fertility and ageing.
Baird DT, Collins J, Egozcue J, Evers LH, Gianaroli L, Leridon H, Sunde A, Templeton A, Van Steirteghem A, Cohen J, Crosignani PG, Devroey P, Diedrich K, Fauser BC, Fraser L, Glasier A, Liebaers I, Mautone G, Penney G, Tarlatzis B; ESHRE Capri Workshop Group
Hum Reprod Update 2005 May-Jun;11(3):261-76. Epub 2005 Apr 14 doi: 10.1093/humupd/dmi006. PMID: 15831503

Clinical prediction guides

Menopausal hormone therapy and risk for dementia in women with CKD: A nationwide observational cohort study.
Huh H, Kim M, Jung S, Cho JM, Kim SG, Park S, Lee S, Kang E, Kim Y, Kim DK, Joo KW, Han K, Cho S
Nephrology (Carlton) 2024 Mar;29(3):126-134. Epub 2023 Dec 13 doi: 10.1111/nep.14260. PMID: 38092706
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
Molecular Genetics of Premature Ovarian Insufficiency.
Jiao X, Ke H, Qin Y, Chen ZJ
Trends Endocrinol Metab 2018 Nov;29(11):795-807. Epub 2018 Aug 2 doi: 10.1016/j.tem.2018.07.002. PMID: 30078697
Fertility and ageing.
Baird DT, Collins J, Egozcue J, Evers LH, Gianaroli L, Leridon H, Sunde A, Templeton A, Van Steirteghem A, Cohen J, Crosignani PG, Devroey P, Diedrich K, Fauser BC, Fraser L, Glasier A, Liebaers I, Mautone G, Penney G, Tarlatzis B; ESHRE Capri Workshop Group
Hum Reprod Update 2005 May-Jun;11(3):261-76. Epub 2005 Apr 14 doi: 10.1093/humupd/dmi006. PMID: 15831503
Skin changes in menopause.
Bolognia JL, Braverman IM, Rousseau ME, Sarrel PM
Maturitas 1989 Dec;11(4):295-304. doi: 10.1016/0378-5122(89)90026-1. PMID: 2693917

Recent systematic reviews

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
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
Factors associated with fertility abnormalities in women with systemic lupus erythematosus: a systematic review and meta-analysis.
Giambalvo S, Garaffoni C, Silvagni E, Furini F, Rizzo R, Govoni M, Bortoluzzi A
Autoimmun Rev 2022 Apr;21(4):103038. Epub 2022 Jan 4 doi: 10.1016/j.autrev.2022.103038. PMID: 34995765
Pregnancy following diagnosis of premature ovarian insufficiency: a systematic review.
Fraison E, Crawford G, Casper G, Harris V, Ledger W
Reprod Biomed Online 2019 Sep;39(3):467-476. Epub 2019 Apr 30 doi: 10.1016/j.rbmo.2019.04.019. PMID: 31279714

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