Endocrine Abstracts

Presentation and investigation: A 10-month-old girl presented with a bluish lump on the left side of her abdomen which was increasing in size. An abdominal mass was palpable on examination. An ultrasound showed a large, partly calcified mass measuring 9×6×9 cm arising from the left adrenal gland. There were also calcified lesions in her liver and lungs suggesting metastsis. MRI confirmed the ultrasound finding plus detected an intraspinal deposit with some cord compression. Although, MIBG scan was negative and urine was negative for vanillylmandelic acid (VMA), this was thought to be neuroblastoma.

Treatment and progress: Following two cycles of chemotherapy, a repeat MRI showed a slight increase in size of the mass. She was given further chemotherapy (Kushner protocol which included mitotane) while further investigations were being carried out.

Initial urine steroid profile showed low steroid profile. Bloods showed low androgens suggesting this adrenal mass was a non-steroid secreting tumour. A Synacthen test was done which revealed adrenal insufficiency with low cortisol (max of 157 nmol/l and high baseline ACTH of 133 ng/l). She was started on hydrocortisone.

Further management: Initial subcutaneous biopsy of the skin lesions was inconclusive. Subsequent immunohistological analysis was positive for vimentine, cytokertin and synaptophysin which are indicative of adrenocortical carcinoma.

In view of this she underwent bilateral adrenalectomy. She has undergone T5–T8 laminoplasty and decompression to relieve the cord compression caused by the intraspinal metastatic lesion. There are residual metastases in the spine – which have remained stable over the years. She is now on a high dose of hydrocortisone (16 mg/m² per day) to keep her ACTH levels undetectable. She is also on maintenance fludrocortisone. She is currently doing well and leading an active life, with no evidence of disease progression.

Leaning points: Adrenocortical tumours in children are vanishingly rare. Nevertheless, this should be considered in any child with any adrenal mass. Adrenal function and reserve should be assessed in these children.