Background: Endogenous Cushings Syndrome (CS) is a rare disease in children, and corticotropin-independent forms are even scarcer. In childhood it carries a significant burden, resulting from both prolonged hypercortisolism long-term effects and treatment-associated morbidity.
Case Report: A 23-month-old girl presented with irritability, central obesity with rapid weight gain and arrested linear growth, cushingoid facies with facial hair and acne, cervical acanthosis nigricans, and severe hypertension. Laboratory evaluation highlighted corticotropin-independent CS: hypercortisolemia (42 µg/dL at 5 am; RR 2,5-23,0 µg/dL), unmeasurably low ACTH (<5 pg/ml), elevated 24h hypercortisoluria (462,6 µg, RR 28,5-213,7 µg), loss of cortisol circadian rhythm and negative overnight dexamethasone suppression test. MRI revealed normal adrenal glands, without enlargement or focal lesions. After 1 week of metyrapone (15 mg/kg/dose q6h) adrenal suppression, along with Lugols iodine solution (32,5 mg/day) thyroid inhibition, scintigraphy with 131I-NP-59 (activity 19,7 MBq) was performed. A two-times higher bilateral adrenal radiopharmaceutical uptake was observed at 3rd, 5th, and 7th days, on a sequential thoracoabdominal-pelvic imaging protocol. As the sign was slightly more pronounced on the right side, a right adrenalectomy was then performed. Macroscopic exam revealed a normally dimensioned adrenal gland (3,6 x 2,5 x 0,5cm) with homogenous yellowish appearance and six 0,5-1,2cm nodular lesions. The histological exam showed nodular adrenal hyperplasia without malignant features. A genetic study by mendeliome sequencing was inconclusive, and more tests are being performed to unravel the etiology. Two weeks after surgery, blood pressure improved to values right below 90th percentile and antihypertensive therapy withdrawal could be started. In three weeks time, there was a positive evolution with a decrease in serum cortisol (15,6 µg/dL) and an increase in ACTH (53,40 pg/ml), as well as an evident regression of cushingoid facies, acne, hypertrichosis, and acanthosis nigricans.
Discussion: Some forms of adrenal cortisol hyperproduction may not be readily apparent on routine imaging techniques, posing additional difficulties in the diagnosis. In these cases, scintigraphy studies are a diagnostic paramount. On the other hand, whenever possible unilateral adrenalectomy may be a safe and effective therapeutical option, preventing (or at least postponing) hormone replacement therapy.
22 Sep 2021 - 26 Sep 2021