Article
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.
The Journal of clinical endocrinology and metabolism - 1 Sept 2000
Kottler M L, Chauvin S, Lahlou N, Harris C E, Johnston C J, Lagarde J P, Bouchard P, Farid N R, Counis R
Abstract excerpt
We describe a woman with complete hypogonadotropic hypogonadism and a new compound heterozygous mutation of the GnRH receptor (GnRHR) gene. A null mutation L314X leading to a partial deletion of the seventh transmembrane domain of the GnRHR is associated with a Q106R mutation previously described. L314X mutant receptor shows neither measurable binding nor inositol phosphate production when transfected in CHO-K1...
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