Background: A testicular adrenal rest tumor in an adult males who complaint with testicular enlargement and fertility request, and diagnosed with congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency with homozygous mutation L299P in the CYP11B1 gene and accompanied by impaired spermatogenesis and Leydig cell failure was reported.
Case Report: A 27-year-old man was complaint with bilateral progressive painful enlargement of the testes, continuing for several years, and fertility request. On examination, his height was 156 cm and weight was 66 kg. His blood pressure and pulse rate were 190/120 mmHg and 70 beat per minute respectively. Bilateral testes were abnormal on palpation, being nodular and knobby, irregular margin and hard. Bilateral testes were abnormal on palpation, being nodular and knobby, irregular margin and hard. The right and left testes were measured 5×7 cm within excess of 25 ml. A clinical diagnosis of adrenal rests in the testes was made, and supported on a testicular ultrasound and catheterization of the venae cava and gonadal veins. Genetic analyses showed homozygous mutation Leu299Pro in CYP11B1 gen. The patient has treated with prednisolone 5 mg po daily and amlodipin 10 mg per day, and referred to fertility unit for in vitro fertilisation.
Conclusion: The mutation Leu299Pro has been described a reduction of the enzymatic activity of the mutated protein to 1.2%. The testes of affected males should be carefully examined throughout childhood, adolescence, and adulthood. A local negative effect of the tumor on the normal testicular tissue possibly contributed to impaired Leydig cell function. At this location, large tumors can easily compress the rete testis and cause obstructive azoospermia. The preferred treatment of testicular adrenal rest tumors and/or impaired spermatogenesis in patients with CAH is intensifying glucocorticoid therapy.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology