Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
Authors:
- B GondosBGB Gondos
- S KosugiSKS Kosugi
- T MoriTMT Mori
- A ShenkerASA Shenker
Open Access
- 1 April 1998
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 35 (4) , 340-341
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.Keywords
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