Androgen-producing tumours of the adrenal are extremely rare. The androgen effects and malignancy potential can be detrimental in children. Adrenal adenomas are usually small, whereas carcinomas are larger and aggressive. We present the challenges in managing a female toddler with a large androgen secreting adrenal adenoma. A 22 months old 46 XX girl presented with features of hyperandrogenism but not of glucocorticoid or mineralocorticoid excess: tall stature, facial and pubic hair, cliteromegaly, deepening of voice, muscular appearance and major behavioural changes from age 9 months. At presentation, her height and weight were 94.5 cm (at 97th centile) and 18.25 kg (above 99th centile) respectively. Initial androgens levels were: DHEA-Sulphate 22.8 μmol/l, Androstenedione >50.0 nmol/l, Testosterone 23.4 nmol/l, Free Androgen Index 48.8. 8am renin and cortisol were normal, and ACTH undetectable. Tumour markers (Carcinoembryonic Antigen, Beta-HCG, Alpha fetoprotein) were negative. Bone age was advanced between 3 and 4 years. Ultrasound abdomen revealed a well-defined round mass in the right adrenal. MRI revealed a large solid mass 4.6×3.6 (axial)×4 cm (CC) with no cystic, necrotic, or haemorrhagic component. There was no tumour rupture, invasion into the kidney, liver or adjacent vessels. She underwent right adrenalectomy. Complete macroscopic clearance was achieved despite the tumour being friable and haemorrhagic. Histological findings were consistent with a localised adrenal adenoma (based on modified Weis Criteria, Weinke et al. AmJ Surg Path 2003; 27:867881). Post-op androgen levels were low: DHEA-Sulphate <0.5, Androstenedione <1 and testosterone <0.5. Standard dose Synacthen test showed suboptimal Cortisol (93 and 195 nmol/l at 0 and 30 min) and the need for hydrocortisone replacement. Although the tumour was large relative to the child and surgical resection unusually challenging, clinical and histological findings were suggestive of an adrenal adenoma. While this carries a good outcome, some effects of prolonged androgen exposure in early life might be irreversible and will required ongoing management.
22 - 24 Nov 2017
British Society for Paediatric Endocrinology and Diabetes