Primary Aldosteronism as the Initial Presentation of Adrenocortical Multiple Hormone Producing Tumor

Introduction: Primary aldosteronism (PA) accounts for ∼10% of cases of hypertension in adults, however it’s a rare disease in children. We present a rare pediatric case with PA as the initial presentation of adrenocortical multiple hormone producing tumor. Case: A 7-year-old Japanese girl, who had right-sided hypoplastic leg and foot syndactyly, presented to our hospital due to abnormal ECG of ST depression at V6 on school health check-up. She showed normal growth, no signs of virilization nor Cushingoid appearance. She had elevated blood pressure (164/98 mmHg), low potassium (2.6–3.0 mEq/L) and low cardiac ejection fraction (30–40%). Her plasma aldosterone concentration (PAC) was 441 pg/mL and aldosterone/renin ratio (ARR) was 1470. Contrast-enhanced CT and MRI showed a right adrenal mass (34×22×30 mm) with high lipid content, which led to the diagnosis of primary aldosteronism by the right adrenal adenoma. Adrenal venous sampling failed to identify localization of aldosterone production. Since the possibility of bilateral production of aldosterone remained, the girl was treated with multiple anti-hypertensive medicine including spironolactone and potassium supplementation. Although the serum potassium levels were maintained within normal range, exercise-induced PVCs occurred 6 months after first visit. Abdominal US showed no changes in size of the tumor. Ten months later, she showed gradual weight gain without growth deceleration. Twelve months later, abdominal US revealed apparent enlargement of the right adrenal mass, and MRI scan showed a 156% increase in size of the right adrenal mass (32×50×53 mm). She showed further weight gain with moon face, hirsutism and acne. Hormonal analysis revealed elevated serum and urine cortisol levels (30–40μg/dL and 269–337 μg/m(2)/day, respectively), and suppressed ACTH levels with no diurnal variation. Serum testosterone levels elevated to 1.00 ng/mL and serum DHEA-S to 273 μg/dL. Retrospective analysis of serum testosterone at the first visit was already mildly elevated to 0.47 ng/mL. Although no distant metastases were detected before surgery, direct liver invasion was found at right adrenal tumor rejection. Clinical Lessons: Primary aldosterone producing adenoma is extremely rare in childhood. In our case, initially the adrenal tumor produced aldosterone predominantly, and it revealed to produce glucocorticoid and androgen later on. Androgen producing adrenal tumor in children tends to have malignant nature. Although initial presentation was compatible with the primary aldosteronism, intense follow-up with detailed monitoring of various hormone levels and images, and early surgical intervention should be considered.