Endocrine Abstracts

Introduction: Childhood Adrenocortical tumours (ACTs) are rare neoplasms of the adrenal glands, accounting for 0.2% of all childhood cancers. Cases are mainly sporadic, but some mutations have been identified. ACTs are usually benign unilateral adenomas, but rare malignant carcinomas have poor prognosis. We present a case of adrenal insufficiency following a unilateral adrenalectomy for a functioning adrenocortical adenoma in a child.

Case: A 15 month old girl presented to a District General Hospital with a 3 month history of virilisation; coarse pubic hair, labia majora hypertrophy and clitoral enlargement. She had an uncomplicated birth and no prior medical conditions. There is significant family history of malignancy, including ACT in a maternal aunt. Initial tests showed raised serum androstenedione (21.6nmol/l) and testosterone (14.6nmol/l) along with high urinary adrenal androgen metabolites. A left sided adrenal hypoechoic solid mass was noted on ultrasound and staging CT confirmed a 3 cm lesion. She underwent an urgent left adrenalectomy and histopathology diagnosed a functional adrenocortical adenoma. A week later, she presented to our tertiary hospital with an unarousable episode and hypoglycaemia needing intramuscular glucagon. The hypoglycaemia screen showed low Cortisol (136nmol/l) and high ACTH (98.2ng/l). She was commenced on hydrocortisone maintenance for adrenal insufficiency. Subsequently, she had multiple admissions with hypoglycaemia requiring increasing doses of hydrocortisone and later on fludrocortisone was also required. Eventually, a cortisol day curve revealed that she is a ‘fast metaboliser’. Further genetic testing detected TP53 mutation (Li-Fraumeni syndrome). Currently, she is thriving well on five times a day hydrocortisone and once daily fludrocortisone, with no further hypoglycaemic episodes. She is under regular paediatric endocrinology and oncology follow-up.

Discussion and learning points: Most childhood ACTs are functional and presentation largely depends on the extent and type of hormone secreted, with virilisation and hypercortisolism being common in girls. Adrenal suppression can occur after adrenalectomy requiring steroid replacement and close monitoring. There can also be a genetic component which increases the lifetime risk of cancers, requiring lifelong surveillance and family testing is recommended.