title: 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.
authors.affiliation: Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Denmark.
authors.forename: J
authors.initials: J
authors.lastname: Müller
authors.forename: B
authors.initials: B
authors.lastname: Gondos
authors.forename: S
authors.initials: S
authors.lastname: Kosugi
authors.forename: T
authors.initials: T
authors.lastname: Mori
authors.forename: A
authors.initials: A
authors.lastname: Shenker
mesh_terms: 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
chemical_list: D011974:Receptors, LH; D001224:Aspartic Acid; D014443:Tyrosine