U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
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 insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
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.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.

Professional guidelines

PubMed

Éliás M, Kónya M, Kekk Z, Turan C, das Virgens IPA, Tóth R, Keszthelyi M, Hegyi P, Várbíró S, Sipos M
J Ovarian Res 2024 May 17;17(1):104. doi: 10.1186/s13048-024-01423-2. PMID: 38760869Free PMC Article
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
Hamoda H; British Menopause Society and Women’s Health Concern
Post Reprod Health 2017 Mar;23(1):22-35. doi: 10.1177/2053369117699358. PMID: 28381102

Recent clinical studies

Etiology

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
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
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
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
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

Diagnosis

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
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
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
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
Nappi RE, Cucinella L, Martini E, Rossi M, Tiranini L, Martella S, Bosoni D, Cassani C
Climacteric 2019 Jun;22(3):289-295. Epub 2019 Mar 22 doi: 10.1080/13697137.2019.1575356. PMID: 30900474

Therapy

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
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
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
Hamoda H; British Menopause Society and Women’s Health Concern
Post Reprod Health 2017 Mar;23(1):22-35. doi: 10.1177/2053369117699358. PMID: 28381102
Arlt W
Semin Reprod Med 2004 Nov;22(4):379-88. doi: 10.1055/s-2004-861554. PMID: 15635505

Prognosis

Liang C, Dobson AJ, Chung HF, van der Schouw YT, Sandin S, Weiderpass E, Mishra GD
Eur J Epidemiol 2024 Jul;39(7):785-793. Epub 2024 Jun 18 doi: 10.1007/s10654-024-01135-3. PMID: 38888679Free PMC Article
Lee GB, Nam GE, Kim W, Han B, Cho KH, Kim SM, Choi YS, Kim DH, Park YG, Jung JH, Han K, Kim YH
J Am Heart Assoc 2023 Nov 21;12(22):e030117. Epub 2023 Nov 10 doi: 10.1161/JAHA.123.030117. PMID: 37947103Free PMC Article
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
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
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

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
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
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
Boumpas DT, Sidiropoulos P, Bertsias G
Nat Clin Pract Rheumatol 2005 Nov;1(1):22-30. doi: 10.1038/ncprheum0016. PMID: 16932624
Arlt W
Semin Reprod Med 2004 Nov;22(4):379-88. doi: 10.1055/s-2004-861554. PMID: 15635505

Recent systematic reviews

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
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
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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...