Background: Paediatric adrenocortical tumours (ACT) are rare and typically present with virilising symptoms and signs which can be similar to other virilising conditions such as congenital adrenal hyperplasia.
Case description: We describe three cases of ACT diagnosed and managed at our institution over the past 10 years. The three girls presented with symptoms of virilisation. The mean interval between first symptoms and diagnosis was 19.6 months (ranging from 12 to 31 months). Age of presentation ranged from birth to 12 years. One patient was misdiagnosed and treated for congenital adrenal hyperplasia for 7 months. Diagnosis of ACT was confirmed by laboratory, diagnostic imaging and histopathology (Tables 1 and 2). All three patients underwent complete resection of tumour and affected adrenal gland. Hormone levels returned to normal after surgical resection. Two patients had recurrence one had right lung metastasis while the other had local tumour recurrence. Both patients achieved complete remission since completion of chemotherapy.
|Patient 1||Patient 2||Patient 3||Normal values|
|17alpha-OH progesterone (nmol/L)||>36.6||34.2||4.45||0.65.5 <3.3 (<1 year old)|
|8am Cortisol (nmol/L)||228||207||ND||101536|
|Total Testosterone (nmol/L)||9.9||33.2||22.5||0.42.0|
|Short Synacthen test||Failed||Passed||Not done|
|Patient 1||Patient 2||Patient 3|
|Tumour weight (g)||67||371||Well below 500|
|Tumour size (cm)||7.5×4.5×3.5||10.5×9.5×6.5||3.0×2.5×2.3|
|Invasion into vena cava||No||No||No|
|Capsular invasion||Focal invasion seen||No||No|
|Lymph node biopsy||Negative for malignancy||Not done||Not done|
|Presence of tumour necrosis||Yes||Yes||No|
|Mitoses||Up to 23 per 50 HPF*, atypical mitoses seen||Up to 8 per 50 HPF, atypical mitoses seen||6 per 50 HPF|
|Immunohisto- chemistry||p53 positive cells||Strongly positive||Patchy positivity||positive|
|Ki67 index (%)||450||1025||520|
Conclusion: This descriptive analysis of our cases concurs with many findings in the literature. Based on our experience, we propose that it may be prudent to perform ultrasound abdomen (with emphasis on the adrenal glands) for all girls who present with virilising features.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology