hrp0097p2-193 | Adrenals and HPA Axis | ESPE2023

Patient with Carney complex syndrome due to PRKAR1A mutation.

Ioannis-Anargyros Vasilakis , Barouti Konstantina , Sertedaki Amalia , Giannopoulou Effrosyni , Markopoulou Panagiota , Zosi Paraskevi , Lykopoulou Evangelia , Christopoulos Nikolaos , N. Zografos George , Valari Manthoula , Stefanaki Kalliopi , A. Stratakis Constantine , Charmandari Evangelia , Kanaka- Gantenbein Christina

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...