FRI267 Carney Complex From A Single Familycarney Complex From A Single Family Followed Up Over 20 Years With Different Clinical Pattern Evolution

• Published in: Journal of the Endocrine Society 2023-10, Vol.7 (Supplement_1)
• Main Authors: Kuhn, Aliny W, de Melo, Dayane S, Charchar, Helaine L S, Mariani, Beatriz Marinho, Nishi, Mirian Yumie, Ledesma, Felipe L, Tanno, Fábio Y, Srougi, Victor, Chambo, Jose L, Latronico, Ana Claudia, Mendonca, Berenice Bilharinho, Almeida, Madson Q, Barisson Villares Fragoso, Maria Candida
• Format: Article
• Language: English
• Subjects: Adrenal (Excluding Mineralocorticoids)
• ISSN: 2472-1972; 2472-1972
• DOI: 10.1210/jendso/bvad114.262

Disclosure: A.W. Kuhn: None. D.S. de Melo: None. H.L. Charchar: None. B.M. Mariani: None. M.Y. Nishi: None. F.L. Ledesma: None. F.Y. Tanno: None. V. Srougi: None. J.L. Chambo: None. A. Latronico: None. B.B. Mendonca: None. M.Q. Almeida: None. M.C. Fragoso: None. Background: Carney complex (CNC) is a hereditary syndrome with autosomal dominant inheritance, composed of multiple neoplasms, such as benign and malignant, endocrine and nonendocrine tumors (cardiac, cutaneous and neural). The primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome is the most common endocrine neoplasia in CNC. The most frequent genetic cause is related with the presence of germline pathogenic allelic variants on PRKAR1A. Overall CNC penetrance among carriers of the PRKAR1A allelic variant is approximately 97.5%, however, families with long-term follow up is rarely described in literature. Clinical Case: A 17-year-old male, was referred to our Hospital in 2003 due to weight gain (≈10 Kg), BMI 27.27 Kg/m2, acne, occurrence of abdomen purplish striae (>1cm), facial plethora and arrest of pubertal development for last 2 years. He has had pigmented facial lesions since 9 years old. Laboratory revealed suppressed ACTH