When is malignant not malignant?
Godwin Simon & Maen Al-Mrayat
A 21-year-old gentleman, with known congenital adrenal hyperplasia (CAH) due to 21-hydroxylase-enzyme deficiency, presented to Genito Urinary Medicine clinic with dysuria. Examination of testes revealed bilateral firm lumps. Ultrasound scan showed bilateral testicular hypoechoic masses suspicious of malignancy. A second opinion ultrasound scan done at a tertiary care centre confirmed the same findings with the possibility of tumours being either seminoma or teratoma in origin. The patient was referred to urology for surgical management.
Since the patient had an unusual presentation with bilateral testicular tumours and was known to have congenital adrenal hyperplasia, he was referred to endocrinology for opinion. His 17-hydroxyprogesterone levels were markedly elevated at 128 and 105 nmol/l on two occasions (normal<14 nmol/l). A careful history revealed erratic compliance with corticosteroid replacement and a diagnosis of adrenal rest tissue tumours in both testes was considered most likely.
The patient was advised to adhere to his treatment and the testicular lumps were closely followed up clinically and with serial ultrasounds; compliance with corticosteroid replacement was monitored using 17-hydroxyprogestrone serum levels. The 17-hydroxyprogesterone levels became suppressed and testicular tumours decreased in size and eventually disappeared over the course of one year.
This case highlights the need to consider adrenal rest tumours in patients with CAH presenting with testicular lumps, particularly where compliance is an issue. It also demonstrates the potential reversibility of such tumours with appropriate adherence to treatment.