Article
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
The Journal of clinical endocrinology and metabolism - 1 Mar 1999
Caron P, Chauvin S, Christin-Maitre S, Bennet A, Lahlou N, Counis R, Bouchard P, Kottler M L
Abstract excerpt
We have studied a kindred with three siblings with isolated hypogonadotropic hypogonadism caused by compound heterozygote mutations in the GnRH receptor gene. The disorder was transmitted as an autosomal recessive trait. The R262Q mutation in intracellular loop 3 of the receptor was associated with a mutation in the third transmembrane domain of the receptor, A129D, that has never been described before. This...
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