A Novel E250X Mutation of the Pit1 Genein a Patient with Combined Pituitary Hormone Deficiency

• Main Authors: Yoshifumi Irie, Ke ita Tatsumi, Nobuyuki Amino, Masamichi Ogawa, Takashi Kamijo, Chawalit Preeyasombat, Chittiwat Suprasongsin
• Other Authors: Osaka University Faculty of Medicine
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/17262
• Institution: Mahidol University

PIT1 abnormality is defined as a genetic abnormalityin the PIT1 gene that encodes a pituitary specific transcription factor, Pit-1/GHF-1. PIT1 abnormality indicates combined deficiency of thyrotropin (TSH), growth hormone (GH) and prolactin (PRL), and has been reportedin several cases. We studied th...