Endocrine Abstracts

Cushing’s disease (CD) is rare in paediatric practice but requires prompt investigation, diagnosis and therapy to prevent longterm complications. We report the case of a young 12-year-old patient who presented with probable Cushing’s disease complicated on the bone level by osteopenia. Cushing’s syndrome seems to have been evolving for 2 years, i.e. at the age of 10, manifesting itself by a weight gain of 20 kg in 18 months. Clinically, she presents clear signs of hypercortisolism with faciotroncular obesity, large and colored stretch marks and amyotrophy of the lower limbs. The biological exploration returns in favor of an ACTH-dependent Cushing syndrome. Endogenous hypercortisolism was confirmed by a negative weak braking test on plasma and urinary cortisol and etiologically ACTH is high confirming ACTH-dependent hypercortisolism, strong braking on plasma and urinary cortisol is positive in favor of of hypothalalmohypophyseal origin. The hypothalamic-pituitary MRI does not find any pituitary adenoma but highlights a small cystic formation with sediment in hyposignal, evoking a Rathke’s pouch cyst. The cervicothoraco-abdominal scanner is without anomalies. Catheterization of the inferior petrous sinuses showed a Centro peripheral gradient without lateralization. The diagnosis of CS has remained a challenge in clinical practice, with limited sensitivity and specificity of laboratory and imaging tests. For this reason clinical examination, and sometimes long-term observation, can be key to correct diagnosis.