Central Precocious Puberty due to Hypothalamic Hamartomas Correlates with Anatomic Features but Not with Expression of GnRH, TGF, or KISS1

Background/Aims: Hypothalamic hamartomas are the most common identifiable cause of central precocious puberty (CPP). Hamartoma characteristics proposed to be associated with CPP include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor (TGF ), and GRM1A , which encodes the type 1 metabotropic glutamate receptor isoform. We sought to determine whether hamartomas that cause CPP could be distinguished by anatomic features, expression of these molecules, or expression of KISS1 , whose products signal through the receptor GPR54 to stimulate GnRH release. Methods: Clinical records and radiologic images were reviewed for 18 patients who underwent hamartoma resection for intractable seizures; 7 had precocious puberty. Resected tissue was examined for expression of GnRH, GnRH receptor (GnRHR), TGF , KISS1 , GPR54 , and GRM1A . Received: February 6, 2009 Accepted: June 17, 2009 Published online: April 14, 2010 HORMONE