Article
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis.
The Journal of pediatrics - 1 Aug 2006
Jeha George S, Lowenthal Elizabeth D, Chan Wai-Yee, Wu Shao-Ming, Karaviti Lefkothea P
Abstract excerpt
We report on a family with familial male-limited precocious puberty (FMPP) due to a D564G mutation of the LHCGR gene. Family members show a varied phenotypic expression from severe precocity unresponsive to therapy with compromise of the predicted final height in some members, to attainment of tall final stature in other members who never received medical treatment. DNA amplification and sequencing of exon 11 of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
