Bilateral Adrenal and Testicular Mass in a Patient with Congenital Adrenal Hyperplasia

Abstract

Introduction. Congenital adrenal hyperplasia (CAH) autosomal recessive disorders characterized by impaired adrenal steroid hormone synthesis. The most common form is 21-hydroxylase deficiency (21OHD). Testicular adrenal rest tumors (TARTs) are benign intratesticular masses that occur in male patients with CAH. TARTs are quite common in patients with 21OHD who were diagnosed late.Case report. A 41-year-old male patient with CAH secondary to 21OHD. The patient was referred to our endocrinology department from the andrology clinic for bilateral adrenal masses. Bilateral orchiectomy had been performed due to bilateral testicular masses and azoospermia two years ago. The pathology was reported as Leydig cell tumor. In hormonal assessment, baseline cortisol levels were low, 17-hydroxyprogesterone levels with baseline and after cosyntropin stimulation test were high. As a result of clinic and laboratory assessment, the patient was diagnosed with simple virilising CAH due to 21OHD and adrenal insufficiency. Then, prednisolone replacement was initiated. Bilateral orchiectomy tissue blocks of the patient were reassessed and were considered TART. Magnetic resonance imaging revealed bilateral adrenal masses with 88x55 mm on the right and 41x22 mm on the left. Laparoscopic right adrenalectomy was applied and pathology was reported as myelolipoma. Follow-up of the mass on the left adrenal gland is ongoing. The patient is monitored under prednisolone and testosterone replacement therapy. Early diagnosis of CAH is very important because of the complications it causes. It should be considered especially for bilateral testicular and/ or adrenal masses. Both fertility and adrenal glands can be protected with an early diagnosis and an early glucocorticoid replacement.

Case report: Adrenal myelolipoma resected by laparoscopic surgery

“…The laparoscopic operation was once considered contraindicated for adrenal tumors exceeding 5-6 cm (26). However, the laparoscopic approach is being increasingly used and extended for larger-size adrenal tumors, and we found 18 articles published reported 23 cases in recent 10 years (3,4,17,25,(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40). Table 1 provides further details of these reports.…”

Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia

“…We identified 18 case reports and 1 case series (N = 22 patients) of CAH and adrenal tumours where genetic testing was either not performed (N = 17) or negative (N = 5). Most subjects were diagnosed with CYP21A2 deficiency (N = 17) [64,[73][74][75][76][77][78][79][80][81][82][83][84][85][86][87][88][89], while another had CYP17A1 deficiency [89]; four other cases did not have a specific enzymatic deficit available (according to a limited genetic testing panel), but considering that CYP21A2 has the highest prevalence, they would be very likely to suffer from it [85][86][87][88].…”

“…For example, three were diagnosed as neonates [78,86,87], and seven of them were diagnosed during infancy or childhood [64,[73][74][75][76]82,83,88]; two subjects had an uncertain time of CAH diagnosis before presentation for adrenal tumours [81,85]). On the opposite side, 9/22 individuals were identified with CAH after the discovery of the adrenal masses [51,77,79,80,84,89]. Late CAH confirmation was established in some individuals (N = 5) [77,79,80,84,89], while others, despite prior diagnosis, were poorly compliant with specific CAH therapy (N = 5) [73,74,[86][87][88].…”

“…On the opposite side, 9/22 individuals were identified with CAH after the discovery of the adrenal masses [51,77,79,80,84,89]. Late CAH confirmation was established in some individuals (N = 5) [77,79,80,84,89], while others, despite prior diagnosis, were poorly compliant with specific CAH therapy (N = 5) [73,74,[86][87][88].…”

MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia

“…Other testicular tumours beside TART such as Leydig cell tumours (LCTs) have been incidentally described in patients with CAH and it is challenging to discriminate TART from LCT (41,42,43,44,45,46,47,48,49,50). This is clinically important as LCT can have malignant features.…”