Cyclic Cushing syndrome and endocrine disorders in two children with Carney complex
Ana Feller1, Lincolns Mendoza1, Cynthia Ferrari2
1Endocrinology Department; Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina.
Abstract:
Carney complex (CC) is characterized by myxomas, pigmented skin lesions, and endocrine hyperactivity, with a predisposition to tumors. Primary pigmented nodular adrenocortical disease (PPNAD) is notable, manifesting with subclinical, progressive, or cyclical symptoms of Cushing's syndrome (CS) caused by endogenous adrenocorticotropic hormone-independent hypercortisolism, and characterized by a paradoxical increase in urinary free cortisol after a corticosteroid suppression test. PPNAD should be suspected in patients with cyclic CS, and its association with CC should be considered. In cases of strong clinical suspicion, a suppression test should be performed to demonstrate the characteristic paradoxical response and ensure an early diagnosis to avoid the long-term repercussions of hypercortisolism. We describe two patients with clinical and molecular diagnosis of CC who presented with PPNAD with a characteristic biochemical pattern treated with bilateral adrenalectomy in both cases.
Related Concept Videos
Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
Overview of Carbohydrate Metabolism
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Major Hormones and Their Functions
Oxytocin, produced in the hypothalamus and released by the pituitary gland, plays a role in social bonding, childbirth, and...


