Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
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.
Müller
J
J
Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Denmark.
Gondos
B
B
Kosugi
S
S
Mori
T
T
Shenker
A
A
D001224:Aspartic Acid / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D011629:Puberty, Precocious / Q000235:genetics*; D011974:Receptors, LH / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics
D011974:Receptors, LH; D001224:Aspartic Acid; D014443:Tyrosine