Endocrine Abstracts

Background: Adrenocortical carcinoma in childhood is a rare tumour which accounts for about 0.2% of all paediatric malignancies. Affected children usually present with virilization, cushingoid features, and/or mineralocorticoid excess. We present a boy with adrenal carcinoma presented with virilization and unusually suppressed cortisol at initial presentation.

Case report: A two-year-old boy presented with pubic hair, acne, and increased penile growth without cushingoid features for three months. He was normotensive and his abdominal examination was free of distinctive abdominal masses. His hormonal evaluation revealed raised DHEAS (140μg/dl) and testosterone (6.45nmol/l). He had low random serum cortisol with suppressed cortisol response to the Synacthen test (peak cortisol 95nmol/l). His 17α Hydroxyprogesterone and ACTH were normal. Alpha-fetoprotein (αFP) and βHCG were normal. His bone age was advanced by one year. There was no mediastinal mass in the chest X-ray and abdominal ultrasonography (USS) excluded adrenal or liver masses. Urinary steroid profile was not done due to unavailability. He was started on hydrocortisone replacement and closely followed up. After six months, he developed cushingoid features along with rapid virilization and hypertension. Re-evaluation of the hormonal analysis revealed markedly elevated DHEAS (1007μg/dl), cortisol (>1000nmol/l) and suppressed ACTH (1.2pg/ml). Dexamethasone suppression test failed to suppress cortisol. Repeat USS and CT abdomen/chest revealed a left-sided adrenal mass measuring 5.5×5. 1×8 cm without distance metastasis. He underwent left-sided adrenalectomy along with a nephrectomy without postoperative complications. Histology of the tissue sample revealed adrenocortical carcinoma with nodal tumour deposit at the renal hilum. He was started on adjunct treatment with mitotane along with hydrocortisone and fludrocortisone maintenance therapy. After 6 months, the child was clinically well with normal DHEAS. His repeat CT abdominal scan at 6 months was normal without tumour recurrence.

Conclusion: This case highlights the rare initial presentation of an adrenal carcinoma with suppressed cortisol levels. The mechanism of suppressed cortisol in adrenal carcinoma in this child was unclear. A high index of clinical suspicion guided regular clinical, biochemical and radiological monitoring helped with early diagnosis and treatment in a resource-limited country.