Endocrine Abstracts

Introduction: Childhood adrenocortical tumours (ACT) are extremely rare (worldwide incidence: 0.3/million per year). Most affected are young girls – female:male 2:1, peak age at diagnosis −3.5 years.

Case report: A 2.5-year-old-girl presented with a 4-month history of greasy hair, acne, weight gain, especially around face and upper shoulders. She had irritability, daytime lethargy and night-time sleep disturbance. She later developed pubic hair. On examination she was virilised: pubic hair stage II, enlarged labia majora and clitoris, acne over the nose, cheeks and scalp-line; and cushingoid: weight 91st centile, height 2nd–9th centile; with moon facies and a buffalo hump. Abdominal examination and BP were unremarkable.

An ultrasound scan revealed a 6 cm mass in the right adrenal gland. MRI showed no calcification, invasion of adjacent structures, or evidence of distant metastases. Further investigations confirmed a functional ACT: serum androstenedione >35 nmol/l, DHEAS >27.1 nmol/l, testosterone 5.5 nmol/l, cortisol 850 nmol/l.

Following a right adrenolectomy, histology confirmed an adrenocortical adenoma weighing 105 g, measuring 7×6×6 cm. Clinical genetics review showed insufficient family history to warrant p53 gene testing; however the patient had a medical history of large birth-weight, an unusual appearance to umbilicus: enlarged base, small supra-umbilical hernia and one side of abdomen more prominent than the other. More recently mother had noted asymmetry of the leg and foot. Therefore testing for Beckwith–Wiedemann syndrome was recommended. She remains on hydrocortisone cover and a synacthen test is planned for the future.

Conclusion: Typical presentation of ACTs is with syndromes of hormone excess, usually virilisation. Cushing’s is present in 1/3 cases but ACTs are usually inefficient at producing cortisol. While is it rare, ACT should be considered in any child presenting with premature virilisation. Genetics review is always recommended: 80% of children with sporadic ACT have atypical p53 germline mutations. ACT is also associated with isolated hemi-hypertorphy and Beckwith–Wiedemann syndrome.