hrp0097p2-157 | Adrenals and HPA Axis | ESPE2023

ACTH-independent hypercortisolemia: onset clinical picture in a 10-year-old boy with Carney complex

Lugarà Cecilia , Bertherat Jerome , Aversa Tommaso , Pasmant Eric , Valenzise Mariella , Pepe Giorgia , Ferraù Francesco , Cannavò Salvatore , Wasniewska Malgorzata , Corica Domenico

Background: “Carney complex” is an autosomal dominant inheritance extremely rare genetic syndrome, usually determined by PRKAR1A (17q22-24) gene mutations. The clinical picture is characterized by speckled skin pigmentation; cardiac, cutaneous and mammary myxomas; schwannomas; endocrinopathies (acromegaly, Cushing syndrome due to primary pigmented nodular adrenocortical disease) and tumors of the endocrine glands.Case...