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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 insuficiency (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
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Professional guidelines

PubMed

Platelet-rich plasma (PRP) treatment of the ovaries significantly improves fertility parameters and reproductive outcomes in diminished ovarian reserve patients: a systematic review and meta-analysis.
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
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
The British Menopause Society and Women's Health Concern recommendations on the management of women with premature ovarian insufficiency.
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

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
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
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

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
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
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
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
Sexuality in premature ovarian insufficiency.
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

Platelet-rich plasma (PRP) treatment of the ovaries significantly improves fertility parameters and reproductive outcomes in diminished ovarian reserve patients: a systematic review and meta-analysis.
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
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
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
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
Dehydroepiandrosterone replacement therapy.
Arlt W
Semin Reprod Med 2004 Nov;22(4):379-88. doi: 10.1055/s-2004-861554. PMID: 15635505

Prognosis

Association of infertility and recurrent pregnancy loss with the risk of dementia.
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
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
Technology-free predictors of preterm birth in singleton women with threatened preterm labor: a prospective cohort study.
Najjarzadeha M, Mohammad-Alizadeh-Charandabi S, Abbasalizadeh S, Asghari-Jafarabadi M, Mirghafourvand M
BMC Pregnancy Childbirth 2022 Nov 8;22(1):826. doi: 10.1186/s12884-022-05155-3. PMID: 36348314Free 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

Platelet-rich plasma (PRP) treatment of the ovaries significantly improves fertility parameters and reproductive outcomes in diminished ovarian reserve patients: a systematic review and meta-analysis.
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
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
Dehydroepiandrosterone replacement therapy.
Arlt W
Semin Reprod Med 2004 Nov;22(4):379-88. doi: 10.1055/s-2004-861554. PMID: 15635505

Recent systematic reviews

Platelet-rich plasma (PRP) treatment of the ovaries significantly improves fertility parameters and reproductive outcomes in diminished ovarian reserve patients: a systematic review and meta-analysis.
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
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
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
Ovarian function and reproductive outcome after ovarian tissue transplantation: a systematic review.
Sheshpari S, Shahnazi M, Mobarak H, Ahmadian S, Bedate AM, Nariman-Saleh-Fam Z, Nouri M, Rahbarghazi R, Mahdipour M
J Transl Med 2019 Nov 29;17(1):396. doi: 10.1186/s12967-019-02149-2. PMID: 31783875Free PMC Article

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