Severe testotoxicosis phenotype associated with Asp578 [right arrow] Tyr mutation of the lutrophin/choriogonadotrophin receptor gene

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Abstract

Testotoxicosis is a form of male precocious puberty caused by heterogeneous activating mutations in the gene for the lutrophin/choriogonadotrophin receptor (LHR).A patient with an unusually early and severe presentation of testotoxicosis, including profound Leydig cell hyperplasia, was found to have a sporadic mutation encoding Asp578 [right arrow] Tyr. The severe testotoxicosis phenotype appears to be related to the strongly activating nature of the Tyr substitution.

(J Med Genet 1998;35:340-341)

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