Background: Bilateral primary pigmented nodular adrenocortical disease (PPNAD) is one of the rare causes of Cushing syndrome, which has traditionally been treated by bilateral adrenalectomy. However, bilateral adrenalectomy mandates life-long adrenal hormone replacement and the patients remain at risk of adrenal failure for the rest of their lives. In adult patients with PPNAD, there have been a few reports of successful unilateral adrenalectomy. However, to our knowledge, there has been no report of unilateral adrenalectomy for pediatric patients with PPNAD in whom slight hypersecretion of cortisol could be detrimental for growth. Here we report successful unilateral adrenalectomy for a 10-year-old boy with PPNAD.
Case Report: The patient was a 10-year-old Japanese boy who presented with growth arrest and excessive weight gain over the past 6 months. He showed a moon face and truncal obesity suggestive of hyperadrenocorticism. Blood cortisol (15.9817.74 μg/dL) was elevated without diurnal rhythm, which was associated with suppressed ACTH. Blood cortisol was not suppressed by 1 mg- and 8 mg- dexamethasone, and abdominal CE-MRI revealed the presence of multinodular adrenals on both sides, larger on the right side. 131I-adosterol scintigraphy also showed bilateral uptakes which were stronger on the right adrenal. The diagnosis of Cushing syndrome due to multinodular adrenal hyperplasia was made. An endoscopic right adrenalectomy was first performed to preserve adrenal function. Histopathological examination confirmed combined adenoma with PPNAD in the right adrenal gland. On follow up, the patient showed a rapid catch-up growth and diminished Cushingoid features. Blood cortisol levels gradually declined to 3.624.35 μg/dL after surgery without signs of adrenal insufficiency. Although blood ACTH levels were suppressed and undetectable for an extended period following surgery, it began to rise after 9 month and detectable at 21.0 ng/L. Other than PPNAD, the patient has no findings of Carney complex. Genetic analyses for PPNAD and adenoma are in progress.
Conclusion: Unilateral adrenalectomy could be considered for pediatric patients with Cushing syndrome caused by PPNAD, especially when the uptake of 131I-adosterol and the size of nodules show dominance on one side.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology