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Primary ovarian failure

Disease ID:783
Name:Primary ovarian failure
Associated with:1 target
Premature ovarian failure
Database Links
Disease Ontology: DOID:5426
Orphanet: ORPHA619


FSH receptor
Comments:  A D224V mutation in the extracellular domain of the receptor results in impaired targeting of the receptor to the cell membrane while a L601V mutation in the 3rd extracellular loop creates a receptor that bind ligands but has impaired signalling (Touraine et al., 1999). A P519T mutation in the 2nd extracellular loop of the receptor results in impaired targeting of the receptor to the cell membrane (Meduri et al., 2003). These mutations have been indentified in patients suffering from primary ovarian failure.

An A419T mutation in the 2nd transmembrane domain results in abolished adenylyl cyclase signalling, although has no effect on ligand binding. This mutation has been identified in a patient suffering from primary ovarian failure (Doherty et al., 2002).
References:  1-3
Mutations:  FSH receptor is associated with 4 mutation. Click here for details


No ligand related data available for Primary ovarian failure


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1. Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomäki K. (2002) A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab, 87: 1151-1155. [PMID:11889179]

2. Meduri G, Touraine P, Beau I, Lahuna O, Desroches A, Vacher-Lavenu MC, Kuttenn F, Misrahi M. (2003) Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. J Clin Endocrinol Metab, 88 (8): 3491-8. [PMID:12915623]

3. Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR et al.. (1999) New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol Endocrinol, 13 (11): 1844-54. [PMID:10551778]