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Premature ovarian failure 22(POF22)

MedGen UID:
1849005
•Concept ID:
C5882707
•
Disease or Syndrome
Synonym: POF22
 
Gene (location): KASH5 (19q13.33)
 
Monarch Initiative: MONDO:0957822
OMIM®: 620548

Definition

Premature ovarian failure-22 (POF22) is characterized by female infertility, with small to atrophic ovaries and no visible ovarian follicles (Wu et al., 2022; Zhang et al., 2022). 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
Premature ovarian insufficiency
MedGen UID:
9963
•Concept ID:
C0025322
•
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
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
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

Evidence-based approaches for the management of side-effects of adjuvant endocrine therapy in patients with breast cancer.
Franzoi MA, Agostinetto E, Perachino M, Del Mastro L, de Azambuja E, Vaz-Luis I, Partridge AH, Lambertini M
Lancet Oncol 2021 Jul;22(7):e303-e313. Epub 2021 Apr 20 doi: 10.1016/S1470-2045(20)30666-5. PMID: 33891888
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation.
Reato G, Morlin L, Chen S, Furmaniak J, Smith BR, Masiero S, Albergoni MP, Cervato S, Zanchetta R, Betterle C
J Clin Endocrinol Metab 2011 Aug;96(8):E1255-61. Epub 2011 Jun 15 doi: 10.1210/jc.2011-0414. PMID: 21677034

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
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
Evidence-based approaches for the management of side-effects of adjuvant endocrine therapy in patients with breast cancer.
Franzoi MA, Agostinetto E, Perachino M, Del Mastro L, de Azambuja E, Vaz-Luis I, Partridge AH, Lambertini M
Lancet Oncol 2021 Jul;22(7):e303-e313. Epub 2021 Apr 20 doi: 10.1016/S1470-2045(20)30666-5. PMID: 33891888
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
Age at natural menopause and risk of incident cardiovascular disease: a pooled analysis of individual patient data.
Zhu D, Chung HF, Dobson AJ, Pandeya N, Giles GG, Bruinsma F, Brunner EJ, Kuh D, Hardy R, Avis NE, Gold EB, Derby CA, Matthews KA, Cade JE, Greenwood DC, Demakakos P, Brown DE, Sievert LL, Anderson D, Hayashi K, Lee JS, Mizunuma H, Tillin T, Simonsen MK, Adami HO, Weiderpass E, Mishra GD
Lancet Public Health 2019 Nov;4(11):e553-e564. Epub 2019 Oct 3 doi: 10.1016/S2468-2667(19)30155-0. PMID: 31588031Free PMC Article

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
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
Exosomes as Biomarkers for Female Reproductive Diseases Diagnosis and Therapy.
Esfandyari S, Elkafas H, Chugh RM, Park HS, Navarro A, Al-Hendy A
Int J Mol Sci 2021 Feb 22;22(4) doi: 10.3390/ijms22042165. PMID: 33671587Free PMC Article
Menopause guideline appraisal and algorithm development for premature ovarian insufficiency.
Yeganeh L, Boyle JA, Wood A, Teede H, Vincent AJ
Maturitas 2019 Dec;130:21-31. Epub 2019 Sep 22 doi: 10.1016/j.maturitas.2019.09.009. PMID: 31706432

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
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
Evidence-based approaches for the management of side-effects of adjuvant endocrine therapy in patients with breast cancer.
Franzoi MA, Agostinetto E, Perachino M, Del Mastro L, de Azambuja E, Vaz-Luis I, Partridge AH, Lambertini M
Lancet Oncol 2021 Jul;22(7):e303-e313. Epub 2021 Apr 20 doi: 10.1016/S1470-2045(20)30666-5. PMID: 33891888
Early menopause and subsequent cardiovascular disease.
Bertone-Johnson ER, Manson JE
Menopause 2015 Jan;22(1):1-3. doi: 10.1097/GME.0000000000000385. PMID: 25490113
Dehydroepiandrosterone replacement therapy.
Arlt W
Semin Reprod Med 2004 Nov;22(4):379-88. doi: 10.1055/s-2004-861554. PMID: 15635505

Prognosis

Poor ovarian response in assisted reproductive technology cycles is associated with anti-ovarian antibody and pro-inflammatory immune responses.
Huang C, AlSubki L, Yamaya A, Sung N, Kwak-Kim J
J Reprod Immunol 2023 Dec;160:104152. Epub 2023 Sep 15 doi: 10.1016/j.jri.2023.104152. PMID: 37778094
Premenstrual Disorders, Timing of Menopause, and Severity of Vasomotor Symptoms.
Yang Y, Valdimarsdóttir UA, Manson JE, Sievert LL, Harlow BL, Eliassen AH, Bertone-Johnson ER, Lu D
JAMA Netw Open 2023 Sep 5;6(9):e2334545. doi: 10.1001/jamanetworkopen.2023.34545. PMID: 37725375Free PMC Article
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
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
Age at natural menopause and risk of incident cardiovascular disease: a pooled analysis of individual patient data.
Zhu D, Chung HF, Dobson AJ, Pandeya N, Giles GG, Bruinsma F, Brunner EJ, Kuh D, Hardy R, Avis NE, Gold EB, Derby CA, Matthews KA, Cade JE, Greenwood DC, Demakakos P, Brown DE, Sievert LL, Anderson D, Hayashi K, Lee JS, Mizunuma H, Tillin T, Simonsen MK, Adami HO, Weiderpass E, Mishra GD
Lancet Public Health 2019 Nov;4(11):e553-e564. Epub 2019 Oct 3 doi: 10.1016/S2468-2667(19)30155-0. PMID: 31588031Free PMC Article

Clinical prediction guides

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
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
Menopause guideline appraisal and algorithm development for premature ovarian insufficiency.
Yeganeh L, Boyle JA, Wood A, Teede H, Vincent AJ
Maturitas 2019 Dec;130:21-31. Epub 2019 Sep 22 doi: 10.1016/j.maturitas.2019.09.009. PMID: 31706432
Age at natural menopause and risk of incident cardiovascular disease: a pooled analysis of individual patient data.
Zhu D, Chung HF, Dobson AJ, Pandeya N, Giles GG, Bruinsma F, Brunner EJ, Kuh D, Hardy R, Avis NE, Gold EB, Derby CA, Matthews KA, Cade JE, Greenwood DC, Demakakos P, Brown DE, Sievert LL, Anderson D, Hayashi K, Lee JS, Mizunuma H, Tillin T, Simonsen MK, Adami HO, Weiderpass E, Mishra GD
Lancet Public Health 2019 Nov;4(11):e553-e564. Epub 2019 Oct 3 doi: 10.1016/S2468-2667(19)30155-0. PMID: 31588031Free PMC Article
Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population.
Ma L, Chen Y, Mei S, Liu C, Ma X, Li Y, Jiang Y, Ha L, Xu X
Mol Med Rep 2015 Aug;12(2):2529-38. Epub 2015 May 8 doi: 10.3892/mmr.2015.3762. PMID: 25954833Free 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
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
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
The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis.
Golezar S, Ramezani Tehrani F, Khazaei S, Ebadi A, Keshavarz Z
Climacteric 2019 Aug;22(4):403-411. Epub 2019 Mar 4 doi: 10.1080/13697137.2019.1574738. PMID: 30829083

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