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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

Enclomiphene citrate for the treatment of secondary male hypogonadism.
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
Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.
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
Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype.
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

The Relationship between Follicle-stimulating Hormone and Bone Health: Alternative Explanation for Bone Loss beyond Oestrogen?
Chin KY
Int J Med Sci 2018;15(12):1373-1383. Epub 2018 Sep 7 doi: 10.7150/ijms.26571. PMID: 30275766Free PMC Article
Novel insights in the regulation and mechanism of androgen action on bone.
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
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
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
Animal models for aberrations of gonadotropin action.
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
Gonadotropin-independent precocious puberty.
Holland FJ
Endocrinol Metab Clin North Am 1991 Mar;20(1):191-210. PMID: 1903104

Diagnosis

APPL1 as an important regulator of insulin and adiponectin-signaling pathways in the PCOS: A narrative review.
Artimani T, Najafi R
Cell Biol Int 2020 Aug;44(8):1577-1587. Epub 2020 May 6 doi: 10.1002/cbin.11367. PMID: 32339379
The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models.
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
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
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
Genetics of human hypogonadotropic hypogonadism.
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
Gonadotropin-independent precocious puberty.
Holland FJ
Endocrinol Metab Clin North Am 1991 Mar;20(1):191-210. PMID: 1903104

Therapy

Estrogen Versus FSH Effects on Bone Metabolism: Evidence From Interventional Human Studies.
Khosla S
Endocrinology 2020 Aug 1;161(8) doi: 10.1210/endocr/bqaa111. PMID: 32602895Free PMC Article
Pharmacoperones for Misfolded Gonadotropin Receptors.
Newton CL, Anderson RC
Handb Exp Pharmacol 2018;245:111-134. doi: 10.1007/164_2017_64. PMID: 29043503
Clinical Applications of Gonadotropins in the Male.
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
Enclomiphene citrate for the treatment of secondary male hypogonadism.
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
Premature ovarian insufficiency - fertility challenge.
Check JH
Minerva Ginecol 2014 Apr;66(2):133-53. PMID: 24848073

Prognosis

APPL1 as an important regulator of insulin and adiponectin-signaling pathways in the PCOS: A narrative review.
Artimani T, Najafi R
Cell Biol Int 2020 Aug;44(8):1577-1587. Epub 2020 May 6 doi: 10.1002/cbin.11367. PMID: 32339379
Mutations along the pituitary-gonadal axis affecting sexual maturation: novel information from transgenic and knockout mice.
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
Oestrogen-androgen crosstalk in the pathophysiology of erectile dysfunction.
Srilatha B, Adaikan PG
Asian J Androl 2003 Dec;5(4):307-13. PMID: 14695981
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility.
Tapanainen JS, Aittomäki K, Min J, Vaskivuo T, Huhtaniemi IT
Nat Genet 1997 Feb;15(2):205-6. doi: 10.1038/ng0297-205. PMID: 9020851
Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility.
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

Estrogen Versus FSH Effects on Bone Metabolism: Evidence From Interventional Human Studies.
Khosla S
Endocrinology 2020 Aug 1;161(8) doi: 10.1210/endocr/bqaa111. PMID: 32602895Free PMC Article
APPL1 as an important regulator of insulin and adiponectin-signaling pathways in the PCOS: A narrative review.
Artimani T, Najafi R
Cell Biol Int 2020 Aug;44(8):1577-1587. Epub 2020 May 6 doi: 10.1002/cbin.11367. PMID: 32339379
Leptin and the pituitary.
Sone M, Osamura RY
Pituitary 2001 Jan-Apr;4(1-2):15-23. doi: 10.1023/a:1012978525492. PMID: 11824504
The role of follicle-stimulating hormone in spermatogenesis: lessons from knockout animal models.
Sairam MR, Krishnamurthy H
Arch Med Res 2001 Nov-Dec;32(6):601-8. doi: 10.1016/s0188-4409(01)00328-9. PMID: 11750736
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility.
Tapanainen JS, Aittomäki K, Min J, Vaskivuo T, Huhtaniemi IT
Nat Genet 1997 Feb;15(2):205-6. doi: 10.1038/ng0297-205. PMID: 9020851

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