RT Journal Article
SR Electronic
T1 Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 340
OP 341
DO 10.1136/jmg.35.4.340
VO 35
IS 4
A1 J Müller
A1 B Gondos
A1 S Kosugi
A1 T Mori
A1 A Shenker
YR 1998
UL http://jmg.bmj.com/content/35/4/340.abstract
AB 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.