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Inherited primary ovarian failure

MedGen UID:
443920
Concept ID:
C2930861
Disease or Syndrome
Synonyms: Idiopathic familial premature ovarian failure; Premature ovarian failure, familial
 
Monarch Initiative: MONDO:0019852
OMIM® Phenotypic series: PS311360
Orphanet: ORPHA95710

Definition

An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME
Fertil Steril 2017 Jul;108(1):168-174. Epub 2017 Jun 1 doi: 10.1016/j.fertnstert.2017.05.013. PMID: 28579413
Biancalana V, Glaeser D, McQuaid S, Steinbach P
Eur J Hum Genet 2015 Apr;23(4):417-25. Epub 2014 Sep 17 doi: 10.1038/ejhg.2014.185. PMID: 25227148Free PMC Article
Wattendorf DJ, Muenke M
Am Fam Physician 2005 Jul 1;72(1):111-3. PMID: 16035691

Recent clinical studies

Etiology

Federici S, Rossetti R, Moleri S, Munari EV, Frixou M, Bonomi M, Persani L
Front Endocrinol (Lausanne) 2024;15:1464803. Epub 2024 Sep 26 doi: 10.3389/fendo.2024.1464803. PMID: 39391877Free PMC Article
van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME
Fertil Steril 2017 Jul;108(1):168-174. Epub 2017 Jun 1 doi: 10.1016/j.fertnstert.2017.05.013. PMID: 28579413
Rossetti R, Ferrari I, Bonomi M, Persani L
Clin Genet 2017 Feb;91(2):183-198. Epub 2016 Dec 12 doi: 10.1111/cge.12921. PMID: 27861765
Pelosi E, Simonsick E, Forabosco A, Garcia-Ortiz JE, Schlessinger D
Biol Reprod 2015 May;92(5):130. Epub 2015 Apr 22 doi: 10.1095/biolreprod.114.127381. PMID: 25904009Free PMC Article
Martin JR, Arici A
Curr Opin Obstet Gynecol 2008 Jun;20(3):216-20. doi: 10.1097/GCO.0b013e3282fe7254. PMID: 18460934

Diagnosis

Reches A
Methods Mol Biol 2019;1942:3-10. doi: 10.1007/978-1-4939-9080-1_1. PMID: 30900171
van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME
Fertil Steril 2017 Jul;108(1):168-174. Epub 2017 Jun 1 doi: 10.1016/j.fertnstert.2017.05.013. PMID: 28579413
Biancalana V, Glaeser D, McQuaid S, Steinbach P
Eur J Hum Genet 2015 Apr;23(4):417-25. Epub 2014 Sep 17 doi: 10.1038/ejhg.2014.185. PMID: 25227148Free PMC Article
Kattah JC, Kattah WC
Handb Clin Neurol 2014;120:787-98. doi: 10.1016/B978-0-7020-4087-0.00052-8. PMID: 24365352
Wattendorf DJ, Muenke M
Am Fam Physician 2005 Jul 1;72(1):111-3. PMID: 16035691

Therapy

Gong L, Hou J, Yang H, Zhang X, Zhao J, Wang L, Yin X, Feng X, Yin C
J Ethnopharmacol 2024 Mar 25;322:117625. Epub 2023 Dec 23 doi: 10.1016/j.jep.2023.117625. PMID: 38145859
Yani XU, Yutong Z, Weile HE, Linglin D, Ding T, Jialing W, Xufen Z, Qin C, Lifang C, Zhanglian W, Mingjie Z
J Tradit Chin Med 2023 Oct;43(6):1268-1274. doi: 10.19852/j.cnki.jtcm.20230214.002. PMID: 37946490Free PMC Article
Liu FX, Sun Y
Medicine (Baltimore) 2023 May 26;102(21):e33884. doi: 10.1097/MD.0000000000033884. PMID: 37233423Free PMC Article
Forges T, Monnier-Barbarino P, Leheup B, Jouvet P
Hum Reprod Update 2006 Sep-Oct;12(5):573-84. Epub 2006 Jul 11 doi: 10.1093/humupd/dml031. PMID: 16835432
Renner C, Razeghi S, Uberall MA, Licht P, Wildt L, Dörr HG, Hensen J, Schweitzer S
J Inherit Metab Dis 1999 Apr;22(2):194-5. doi: 10.1023/a:1005482826929. PMID: 10234619

Prognosis

Zhang Q, Zhang W, Wu X, Ke H, Qin Y, Zhao S, Guo T
Hum Reprod 2023 Nov 20;38(Suppl 2):ii47-ii56. doi: 10.1093/humrep/dead084. PMID: 37982418
Chen B, Li L, Wang J, Li T, Pan H, Liu B, Zhou Y, Cao Y, Wang B
J Ovarian Res 2018 Jun 18;11(1):48. doi: 10.1186/s13048-018-0413-0. PMID: 29914564Free PMC Article
van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME
Fertil Steril 2017 Jul;108(1):168-174. Epub 2017 Jun 1 doi: 10.1016/j.fertnstert.2017.05.013. PMID: 28579413
Rossetti R, Ferrari I, Bonomi M, Persani L
Clin Genet 2017 Feb;91(2):183-198. Epub 2016 Dec 12 doi: 10.1111/cge.12921. PMID: 27861765
Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A
Cell 1995 Sep 22;82(6):959-68. doi: 10.1016/0092-8674(95)90275-9. PMID: 7553856

Clinical prediction guides

Pastore LM, Christianson MS, McGuinness B, Vaught KC, Maher JY, Kearns WG
Reprod Biomed Online 2019 Apr;38(4):560-569. Epub 2018 Dec 10 doi: 10.1016/j.rbmo.2018.11.009. PMID: 30711457Free PMC Article
Chen B, Li L, Wang J, Li T, Pan H, Liu B, Zhou Y, Cao Y, Wang B
J Ovarian Res 2018 Jun 18;11(1):48. doi: 10.1186/s13048-018-0413-0. PMID: 29914564Free PMC Article
van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME
Fertil Steril 2017 Jul;108(1):168-174. Epub 2017 Jun 1 doi: 10.1016/j.fertnstert.2017.05.013. PMID: 28579413
Rossetti R, Ferrari I, Bonomi M, Persani L
Clin Genet 2017 Feb;91(2):183-198. Epub 2016 Dec 12 doi: 10.1111/cge.12921. PMID: 27861765
Vegetti W, Marozzi A, Manfredini E, Testa G, Alagna F, Nicolosi A, Caliari I, Taborelli M, Tibiletti MG, Dalprà L, Crosignani PG
Mol Cell Endocrinol 2000 Mar 30;161(1-2):53-7. doi: 10.1016/s0303-7207(99)00224-5. PMID: 10773392

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