Endocrine Abstracts

Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing’s syndrome in pediatric population. This entity due to genetic mutation has specific histological appearance and can be associated to Carney’s complex and McCune Albright syndrome. Our aim was to report a pediatric case in order to specify clinical and biological characteristics.

Case report: A 6 year-old boy with no family or personal medical history was sent for puffiness of the face, stature delay and progressive weight gain. Clinical examination showed a short stature (–1,5 SD) with severe android obesity (BMI=50,5), acanthosis nigricans and pubic hair (Tanner stage 3), but without any hypercatabolism feature. Blood pressure=100/60 mmHg. There was not any manifestation of Carney’s complex or McCune Albright syndrome. Biological assessment showed endogenous hypercortisolism with low ACTH and paradoxical response to dexamethasone. He had bilateral adrenalectomy and histological study pleaded for PPNAD. Research for genetic mutation was negative for PRKAR1A. The follow up under hydrocortisone and mineralocorticoid substitution showed a very good result.

Conclusion: PPNAD is a very rare cause of Cushing syndrome in children. It may be familial or isolated. It can be part of Carney’s complex or McCune Albright syndrome which was not the case in our patient. Three genetic mutations can cause PPNAD: PRKAR1A, PDE11A, PDE8B. The first and most important one was negative in our patient. On the biological point this syndrome is characterized by paradoxical response to dexamethasone as in the presented case. For treatment bilateral adrenalectomy is indicated to avoid Cushing’s morbidities.