TY - JOUR T1 - Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene. JF - Journal of Medical Genetics JO - J Med Genet SP - 340 LP - 341 DO - 10.1136/jmg.35.4.340 VL - 35 IS - 4 AU - J Müller AU - B Gondos AU - S Kosugi AU - T Mori AU - A Shenker Y1 - 1998/04/01 UR - http://jmg.bmj.com/content/35/4/340.abstract N2 - 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. ER -