Adrenal rest tumours are well described in 21-hydroxylase deficiency but less frequently in 11-β hydroxylase (11-β OH) deficiency. We report a case with an established diagnosis of 11-β OH deficiency with non-compliance to steroid treatment and endocrine follow-up.
He presented to Urology with haemospermia.He was found to have scrotal swellings. Ultrasound confirmed bilateral testicular tumours.CAT scan showed small para-aortic lymph nodes and one below the renal hilum. He was presumed to have bilateral testicular tumours with congenital adrenal hyperplasia(CAH).He had Oncology review with sperm banking for prospective orchidectomy.An endocrine referral for his CAH was sought.Scans were re-examined.The blood flow was found to be intralesional. Tumour markers were negative An alternative diagnosis of adrenal rest was made. He had raised Androstenedione and17-OH progesterone His blood pressure was also elevated. All these features are consistant with non compliance of treatment with steroids. He was meant to be on Prednisolone 5 mg B.D. Compliance issues were discussed and the risks mainly infertility and complications of elevated blood pressure reiterated.
Adrenals and gonads both originate from the urogenital ridge and adrenal rest tissue can be found in the gonads. CAH has an incidence of 1:10,000 and 2730% of them have adrenal rest (Vanzull et al. 1992). 2/3 of these are salt losing.18% not previously diagnosed.83% are bilateral and palpable (up to 10 cm).With adequate replacement tumour shrinkage occurs in >30% (Stickelbroek et al.). Compliance with treatment prevents occurrence (Srikanth MS et al.). However adenomatous transformation can occur. Diagnosis is by imaging with ultrasound and MRI.
We suggest that sufficient replacement from the start should be ensured. Regular screening with ultrasound of the male CAH. Fertility issues should be discussed. Azoospermia patients may need screening for CAH.