Severe testotoxicosis phenotype associated with Asp578→Tyr mutation of the lutrophin/choriogonadotrophin receptor gene

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→Tyr. The severe testotoxicosis phenotype appears to be related to the strongly activating nature of the Tyr substitution.