ESPE Abstracts

Background: Testotoxicosis or familial male-limited precocious puberty (FMPP) is a rare disease caused by an autosomal dominant activating mutation of the luteinizing hormone receptor gene, leading to early gonadotrophin-independent precocious puberty. Phenotypic expression is limited to males. Treatment evolved over the last decades and nowadays consists of a combination of a potent anti-androgen agent and a third-generation aromatase inhibitor. Since the identification of et...

Background: Congenital panhypopituitarism is associated with a variety of gene mutations. Abnormalities in the Gli2 gene were only recently described to be associated with congenital panhypopituitarism (Franca et al. 2010). Gli2 is a gene that encodes a transcription factor downstream of the Sonic Hedgehog pathway – known to play an important role in morphogenesis during embryology.Objective and hypotheses: Although Gli2 mutations were described to ...