Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.

We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T). Combination of bicalutamide+anastrozole was ineffective in slowing pubertal progression and bone age. Short-term results were better with ketoconazole. PMID: 26831561 [PubMed - in process]

http://www.ncbi.nlm.nih.gov/pubmed/26831561?dopt=Abstract

Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research