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Premature ovarian failure 5(POF5)

MedGen UID:
409743
Concept ID:
C1969060
Disease or Syndrome
Synonym: POF5
 
Gene (location): NOBOX (7q35)
 
Monarch Initiative: MONDO:0012689
OMIM®: 611548

Definition

Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene. [from MONDO]

Clinical features

From HPO
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.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
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.
Streak ovary
MedGen UID:
78597
Concept ID:
C0266371
Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
Hypoplasia of the ovary
MedGen UID:
672766
Concept ID:
C0685840
Congenital Abnormality
Developmental hypoplasia of the ovary.
Reduced antral follicle count
MedGen UID:
1766356
Concept ID:
C5421599
Finding
A count of antral follicles that is lower than normal for age.

Professional guidelines

PubMed

Panay N
Climacteric 2021 Oct;24(5):423-424. doi: 10.1080/13697137.2021.1919460. PMID: 34498504
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Falk SJ, Bober S
Curr Oncol Rep 2016 May;18(5):32. doi: 10.1007/s11912-016-0517-x. PMID: 27074843

Recent clinical studies

Etiology

Rozenberg S, Di Pietrantonio V, Vandromme J, Gilles C
Best Pract Res Clin Endocrinol Metab 2021 Dec;35(6):101577. Epub 2021 Sep 10 doi: 10.1016/j.beem.2021.101577. PMID: 34535397
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
Okoth K, Chandan JS, Marshall T, Thangaratinam S, Thomas GN, Nirantharakumar K, Adderley NJ
BMJ 2020 Oct 7;371:m3502. doi: 10.1136/bmj.m3502. PMID: 33028606Free PMC Article
Ding N, Harlow SD, Randolph JF Jr, Loch-Caruso R, Park SK
Hum Reprod Update 2020 Sep 1;26(5):724-752. doi: 10.1093/humupd/dmaa018. PMID: 32476019Free PMC Article
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

Sideris M, Menon U, Manchanda R
Med J Aust 2024 Mar 18;220(5):264-274. Epub 2024 Feb 14 doi: 10.5694/mja2.52227. PMID: 38353066
Panay N, Anderson RA, Nappi RE, Vincent AJ, Vujovic S, Webber L, Wolfman W
Climacteric 2020 Oct;23(5):426-446. Epub 2020 Sep 8 doi: 10.1080/13697137.2020.1804547. PMID: 32896176
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Johnson RH, Anders CK, Litton JK, Ruddy KJ, Bleyer A
Pediatr Blood Cancer 2018 Dec;65(12):e27397. Epub 2018 Aug 28 doi: 10.1002/pbc.27397. PMID: 30156052Free PMC Article
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Therapy

Rozenberg S, Di Pietrantonio V, Vandromme J, Gilles C
Best Pract Res Clin Endocrinol Metab 2021 Dec;35(6):101577. Epub 2021 Sep 10 doi: 10.1016/j.beem.2021.101577. PMID: 34535397
Sharara FI, Lelea LL, Rahman S, Klebanoff JS, Moawad GN
J Assist Reprod Genet 2021 May;38(5):1003-1012. Epub 2021 Mar 15 doi: 10.1007/s10815-021-02146-9. PMID: 33723748Free PMC Article
Panay N, Anderson RA, Nappi RE, Vincent AJ, Vujovic S, Webber L, Wolfman W
Climacteric 2020 Oct;23(5):426-446. Epub 2020 Sep 8 doi: 10.1080/13697137.2020.1804547. PMID: 32896176
Ding N, Harlow SD, Randolph JF Jr, Loch-Caruso R, Park SK
Hum Reprod Update 2020 Sep 1;26(5):724-752. doi: 10.1093/humupd/dmaa018. PMID: 32476019Free PMC Article
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Prognosis

Sideris M, Menon U, Manchanda R
Med J Aust 2024 Mar 18;220(5):264-274. Epub 2024 Feb 14 doi: 10.5694/mja2.52227. PMID: 38353066
Marnell CS, Bick A, Natarajan P
J Mol Cell Cardiol 2021 Dec;161:98-105. Epub 2021 Jul 21 doi: 10.1016/j.yjmcc.2021.07.004. PMID: 34298011Free PMC Article
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
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Clinical prediction guides

Laven JSE, Louwers YV
Fertil Steril 2024 May;121(5):737-741. Epub 2024 Feb 19 doi: 10.1016/j.fertnstert.2024.02.029. PMID: 38382699
Sideris M, Menon U, Manchanda R
Med J Aust 2024 Mar 18;220(5):264-274. Epub 2024 Feb 14 doi: 10.5694/mja2.52227. PMID: 38353066
Jiao X, Meng T, Zhai Y, Zhao L, Luo W, Liu P, Qin Y
Front Endocrinol (Lausanne) 2021;12:601752. Epub 2021 Mar 18 doi: 10.3389/fendo.2021.601752. PMID: 33815272Free PMC Article
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free PMC Article

Recent systematic reviews

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
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
Okoth K, Chandan JS, Marshall T, Thangaratinam S, Thomas GN, Nirantharakumar K, Adderley NJ
BMJ 2020 Oct 7;371:m3502. doi: 10.1136/bmj.m3502. PMID: 33028606Free PMC Article
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
van Kasteren YM, Schoemaker J
Hum Reprod Update 1999 Sep-Oct;5(5):483-92. doi: 10.1093/humupd/5.5.483. PMID: 10582785

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