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Follicle Stimulating Hormone Receptor Deficiency

MedGen UID:
881803
Concept ID:
C4054941
Disease or Syndrome
Synonym: FSH Receptor Deficiency

Definition

Reduced or absent function of the receptor for follicle stimulating hormone associated with a mutation in the FSHR gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFollicle Stimulating Hormone Receptor Deficiency

Professional guidelines

PubMed

Rodriguez KM, Pastuszak AW, Lipshultz LI
Expert Opin Pharmacother 2016 Aug;17(11):1561-7. Epub 2016 Jul 4 doi: 10.1080/14656566.2016.1204294. PMID: 27337642Free PMC Article
Bry-Gauillard H, Trabado S, Bouligand J, Sarfati J, Francou B, Salenave S, Chanson P, Brailly-Tabard S, Guiochon-Mantel A, Young J
Ann Endocrinol (Paris) 2010 May;71(3):158-62. Epub 2010 Apr 3 doi: 10.1016/j.ando.2010.02.024. PMID: 20363464
Layman LC, McDonough PG
Mol Cell Endocrinol 2000 Mar 30;161(1-2):9-17. doi: 10.1016/s0303-7207(99)00217-8. PMID: 10773385

Recent clinical studies

Etiology

Huijben M, Lock MTWT, de Kemp VF, Beck JJH, De Kort LMO, van Breda HMK
Endocrinol Diabetes Metab 2023 May;6(3):e416. Epub 2023 Mar 30 doi: 10.1002/edm2.416. PMID: 36998229Free PMC Article
Chin KY
Int J Med Sci 2018;15(12):1373-1383. Epub 2018 Sep 7 doi: 10.7150/ijms.26571. PMID: 30275766Free PMC Article
Wu W, Fan X, Yu Y, Wang Z, Wang Y
Gynecol Endocrinol 2018 Jan;34(1):36-39. Epub 2017 Jun 24 doi: 10.1080/09513590.2017.1336216. PMID: 28649890
Sinnesael M, Claessens F, Boonen S, Vanderschueren D
Curr Opin Endocrinol Diabetes Obes 2013 Jun;20(3):240-4. doi: 10.1097/MED.0b013e32835f7d04. PMID: 23449008
Jadhav U, Harris RM, Jameson JL
Mol Cell Endocrinol 2011 Oct 22;346(1-2):65-73. Epub 2011 Jun 13 doi: 10.1016/j.mce.2011.04.017. PMID: 21672607Free PMC Article

Diagnosis

Artimani T, Najafi R
Cell Biol Int 2020 Aug;44(8):1577-1587. Epub 2020 May 6 doi: 10.1002/cbin.11367. PMID: 32339379
Siegel ET, Kim HG, Nishimoto HK, Layman LC
Reprod Sci 2013 Mar;20(3):211-33. Epub 2012 Nov 26 doi: 10.1177/1933719112461184. PMID: 23184658Free PMC Article
Jadhav U, Harris RM, Jameson JL
Mol Cell Endocrinol 2011 Oct 22;346(1-2):65-73. Epub 2011 Jun 13 doi: 10.1016/j.mce.2011.04.017. PMID: 21672607Free PMC Article
van Houten EL, Themmen AP, Visser JA
Ann Endocrinol (Paris) 2010 May;71(3):191-7. Epub 2010 Apr 2 doi: 10.1016/j.ando.2010.02.016. PMID: 20362961
Layman LC
Am J Med Genet 1999 Dec 29;89(4):240-8. doi: 10.1002/(sici)1096-8628(19991229)89:4<240::aid-ajmg8>3.0.co;2-7. PMID: 10727999

Therapy

Huijben M, Lock MTWT, de Kemp VF, Beck JJH, De Kort LMO, van Breda HMK
Endocrinol Diabetes Metab 2023 May;6(3):e416. Epub 2023 Mar 30 doi: 10.1002/edm2.416. PMID: 36998229Free PMC Article
Khosla S
Endocrinology 2020 Aug 1;161(8) doi: 10.1210/endocr/bqaa111. PMID: 32602895Free PMC Article
Newton CL, Anderson RC
Handb Exp Pharmacol 2018;245:111-134. doi: 10.1007/164_2017_64. PMID: 29043503
Ulloa-Aguirre A, Lira-Albarrán S
Prog Mol Biol Transl Sci 2016;143:121-174. Epub 2016 Sep 13 doi: 10.1016/bs.pmbts.2016.08.003. PMID: 27697201
Rodriguez KM, Pastuszak AW, Lipshultz LI
Expert Opin Pharmacother 2016 Aug;17(11):1561-7. Epub 2016 Jul 4 doi: 10.1080/14656566.2016.1204294. PMID: 27337642Free PMC Article

Prognosis

Ren S, Zhang F, Shang L, Yang X, Pan Y, Zhang X, Wu Y
J Ovarian Res 2023 Nov 3;16(1):210. doi: 10.1186/s13048-023-01282-3. PMID: 37919810Free PMC Article
Huijben M, Lock MTWT, de Kemp VF, Beck JJH, De Kort LMO, van Breda HMK
Endocrinol Diabetes Metab 2023 May;6(3):e416. Epub 2023 Mar 30 doi: 10.1002/edm2.416. PMID: 36998229Free PMC Article
Artimani T, Najafi R
Cell Biol Int 2020 Aug;44(8):1577-1587. Epub 2020 May 6 doi: 10.1002/cbin.11367. PMID: 32339379
Srilatha B, Adaikan PG
Asian J Androl 2003 Dec;5(4):307-13. PMID: 14695981
Kumar TR, Wang Y, Lu N, Matzuk MM
Nat Genet 1997 Feb;15(2):201-4. doi: 10.1038/ng0297-201. PMID: 9020850

Clinical prediction guides

Huijben M, Lock MTWT, de Kemp VF, Beck JJH, De Kort LMO, van Breda HMK
Endocrinol Diabetes Metab 2023 May;6(3):e416. Epub 2023 Mar 30 doi: 10.1002/edm2.416. PMID: 36998229Free PMC Article
Khosla S
Endocrinology 2020 Aug 1;161(8) doi: 10.1210/endocr/bqaa111. PMID: 32602895Free PMC Article
Jia Y, Sun A, Meng Z, Liu B, Lei J
Fish Physiol Biochem 2016 Feb;42(1):179-91. Epub 2015 Sep 10 doi: 10.1007/s10695-015-0128-8. PMID: 26358315
Urbanska K, Stashwick C, Poussin M, Powell DJ Jr
Cancer Immunol Res 2015 Oct;3(10):1130-7. Epub 2015 Jun 25 doi: 10.1158/2326-6066.CIR-15-0047. PMID: 26112923Free PMC Article
Sairam MR, Krishnamurthy H
Arch Med Res 2001 Nov-Dec;32(6):601-8. doi: 10.1016/s0188-4409(01)00328-9. PMID: 11750736

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