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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
Yan W, Burns KH, Matzuk MM
APMIS 2003 Jan;111(1):174-81; discussion 182-3. doi: 10.1034/j.1600-0463.2003.1110121.x. PMID: 12760377

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
Zhang W, Xu S, Zhang R, Li Z, Li N, Zhang X, Lu Y, Bian Y, Yang P, Fang F, Qin Y, Jiao X
Am J Reprod Immunol 2023 Apr;89(4):e13685. Epub 2023 Feb 21 doi: 10.1111/aji.13685. PMID: 36752193
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
Peltoketo H, Zhang FP, Rulli SB
Rev Endocr Metab Disord 2011 Dec;12(4):245-58. doi: 10.1007/s11154-011-9174-4. PMID: 21484328Free PMC Article
Holland FJ
Endocrinol Metab Clin North Am 1991 Mar;20(1):191-210. PMID: 1903104

Diagnosis

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
Artimani T, Najafi R
Cell Biol Int 2020 Aug;44(8):1577-1587. Epub 2020 May 6 doi: 10.1002/cbin.11367. PMID: 32339379
Hoffman B, Bradshaw KD
Semin Reprod Med 2003 Nov;21(4):353-62. doi: 10.1055/s-2004-815591. PMID: 14724768
Holland FJ
Endocrinol Metab Clin North Am 1991 Mar;20(1):191-210. PMID: 1903104
McNeely MJ, Soules MR
Fertil Steril 1988 Jul;50(1):1-15. doi: 10.1016/s0015-0282(16)59999-3. PMID: 3289975

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
Newton CL, Anderson RC
Handb Exp Pharmacol 2018;245:111-134. doi: 10.1007/164_2017_64. PMID: 29043503
Trabado S, Lamothe S, Maione L, Bouvattier C, Sarfati J, Brailly-Tabard S, Young J
Ann Endocrinol (Paris) 2014 May;75(2):79-87. Epub 2014 May 9 doi: 10.1016/j.ando.2014.04.011. PMID: 24815726
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
Sharara FI, Giudice LC
J Soc Gynecol Investig 1997 Jan-Feb;4(1):2-7. doi: 10.1016/S1071-5576(96)00059-7. PMID: 9051627

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
Huhtaniemi I
Mol Cell Endocrinol 2006 Jul 25;254-255:84-90. Epub 2006 May 30 doi: 10.1016/j.mce.2006.04.015. PMID: 16730882
Srilatha B, Adaikan PG
Asian J Androl 2003 Dec;5(4):307-13. PMID: 14695981

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
Zhang W, Xu S, Zhang R, Li Z, Li N, Zhang X, Lu Y, Bian Y, Yang P, Fang F, Qin Y, Jiao X
Am J Reprod Immunol 2023 Apr;89(4):e13685. Epub 2023 Feb 21 doi: 10.1111/aji.13685. PMID: 36752193
Kleinau G, Kalveram L, Köhrle J, Szkudlinski M, Schomburg L, Biebermann H, Grüters-Kieslich A
Mol Endocrinol 2016 Sep;30(9):954-64. Epub 2016 Jul 7 doi: 10.1210/me.2016-1065. PMID: 27387040Free PMC Article
Yan W, Burns KH, Matzuk MM
APMIS 2003 Jan;111(1):174-81; discussion 182-3. doi: 10.1034/j.1600-0463.2003.1110121.x. PMID: 12760377
Poretsky L, Kalin MF
Endocr Rev 1987 May;8(2):132-41. doi: 10.1210/edrv-8-2-132. PMID: 3301317

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