A girl with primary pigmented adrenocortical disease (PPNAD): challenges in diagnosis and management

Clinical case A 2-year-old, previously healthy girl presented with rapid weight gain for 5 months. She had Cushingoid appearance, acne, hirsutism, hypertension, and normal pre-pubertal female genitalia. Her weight was 16.9 kg (>97 percentile) and height was 85 cm (3 percentile). Serum cortisol levels revealed loss of diurnal variation (35.0 and 30.1 μg/ dl at 8.00 am and 11.00 pm, respectively). ACTH levels were unsuppressible at 22.4 (1) and 20.5 pg/ml (2). Testosterone and DHEAS levels were undetectable. Abdominal USG were done twice. The first study showed enlargement of bilateral adrenals (right 1.6x1.2 cm and left 1.7x1.4 cm), but the subsequent one was unremarkable. Pituitary MRI was normal. CT chest included neck and abdomen revealed normal adrenal glands without mass. High dose dexamethasone suppression test (HDDST) revealed unsuppressible cortisol levels (baseline 51.9 and post-HDSST 47.2 μg/dl). Repeated ACTH levels were 13.6 and 15.1 pg/ml, suggested ACTH-independent CS. CT abdomen was reviewed by an adrenal radiologist expert and a small nodule (3-4 mm in size) of the right gland was identified, thus micronodular adrenocortical hyperplasia (MAD) was suspected. Laparoscopic right adrenalectomy was done. The right adrenal gland had normal gross findings, but histopathology revealed nodular thickening of the cortical tissue and internodular atrophy, which were compatible with PPNAD. After surgery, the features of CS were gradually subsided and cortisol levels were steadily declined to normal.