Bilateral testicular tumours in congenital adrenal hyperplasia: a continuing diagnostic and therapeutic dilemma.
Bilateral testicular tumours are a rare but well described complication of congenital adrenal hyperplasia (CAH). It can be extremely difficult to distinguish histologically between Leydig cell tumours and adrenocortical rest hyperplasia which may lead in some cases to unnecessary orchidectomy in young men. A 26-year-old male in whom CAH had been diagnosed neonatally, was referred for further investigation of a craggy mass in the left testis. Six months earlier, right orchidectomy had been performed after presentation with bilateral enlarged, hard testes and azoospermia. The tumour was interpreted to be a malignant interstitial cell tumour of the testis. Our investigations revealed that his CAH was inadequately controlled and that the hormonal secretion from the remaining left testicular mass was ACTH dependent. Percutaneous venous sampling revealed high concentrations of cortisol and other adrenocortical hormones coming from the gonadal vein. Dexamethasone suppressed these adrenal hormones and reduced the size and softened the consistency of the testicular mass. Total disappearance of the mass was achieved by using dexamethasone, given in a reverse circadian rhythm regimen. Spermatogenesis returned and the patient's wife became pregnant after 6 months; she gave birth to a normal male infant. To our knowledge, this is the first time in this clinical setting that fertility has been achieved. This case highlights the need for both a functional and histological assessment of such 'tumours' in CAH prior to orchidectomy.
Cunnah
D
D
Department of Endocrinology, St Bartholomew's Hospital, London, UK.
Perry
L
L
Dacie
J A
JA
Grant
D B
DB
Lowe
D G
DG
Savage
M O
MO
Besser
G M
GM
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications*; D000314:Adrenal Rest Tumor / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D000328:Adult; D003907:Dexamethasone / Q000627:therapeutic use; D003937:Diagnosis, Differential; D006801:Humans; D007984:Leydig Cell Tumor / Q000175:diagnosis*; D008297:Male; D013736:Testicular Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology
D003907:Dexamethasone