title: Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
abstract: BACKGROUND
  Synthesis of cortisol and aldosterone is impaired in patients with congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency. Men with CAH have low fertility rates compared with the normal population, and this is related to testicular adrenal rest tumors. Findings of azoospermia in combination with a testicular tumor on ultrasound are likely to have a mechanical cause, especially when in the testicular mediastinum. The preferred treatment method consists of intensive corticoid therapy. However, when the tumor is unresponsive to steroid therapy, surgical treatment should be considered.
  
  
  METHODS
  We present the case of a male patient with CAH due to 21-hydroxylase deficiency who presented a testicular tumor and azoospermia. Treatment with low daily corticoid doses had previously been started by an endocrinologist, but after 12 months, no significant change in sperm count was found. Although the adrenocorticotrophic hormone and 17-hydroxyprogesterone levels returned to normal values, the follicle-stimulating hormone (FSH), luteinizing hormone and testosterone levels remained unchanged. Ultrasound examination confirmed that the testicles were small and heterogenous bilaterally, and revealed a mosaic area at the projection of the testis network bilaterally. Magnetic resonance imaging confirmed the finding. Testicular biopsy revealed the presence of preserved spermatogenesis and spermiogenesis in 20% of the seminiferous tubules in the right testicle. The patient underwent testis-sparing tumor resection. After 12 months of follow-up, there was no tumor recurrence but the patient still presented azoospermia and joined an intracytoplasmic sperm injection program.
authors: Department of Urology, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil. gsmarchini@hotmail.com
authors: Giovanni Scala
authors: GS
authors: Marchini
authors: Marcello
authors: M
authors: Cocuzza
authors: Rodrigo
authors: R
authors: Pagani
authors: Fábio César
authors: FC
authors: Torricelli
authors: Jorge
authors: J
authors: Hallak
authors: Miguel
authors: M
authors: Srougi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis*; D000314:Adrenal Rest Tumor / Q000175:diagnosis* / Q000628:therapy; D000328:Adult; D053713:Azoospermia / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013736:Testicular Neoplasms / Q000175:diagnosis* / Q000628:therapy; D013737:Testis / Q000473:pathology; D016896:Treatment Outcome