Total Adrenal Volume But Not Testicular Adrenal Rest Tumor Volume Is Associated with Hormonal Control in Patients with 21-Hydroxylase Deficiency

• Published in: The journal of clinical endocrinology and metabolism 2010-05, Vol.95 (5), p.2065-2072
• Main Authors: Reisch, Nicole, Scherr, Michael, Flade, Linda, Bidlingmaier, Martin, Schwarz, Hans-Peter, Müller-Lisse, Ullrich, Reincke, Martin, Quinkler, Marcus, Beuschlein, Felix
• Format: Article
• Language: English
• Subjects: Adolescent; Adrenal Glands - anatomy & histology; Adrenal Hyperplasia, Congenital - complications; Adrenal Hyperplasia, Congenital - enzymology; Adrenal Hyperplasia, Congenital - genetics; Adrenal Rest Tumor - enzymology; Adrenal Rest Tumor - epidemiology; Adrenal Rest Tumor - genetics; Adrenal Rest Tumor - pathology; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); Adult; Biological and medical sciences; Body Mass Index; Child; Child, Preschool; Dexamethasone; Drug Therapy, Combination; Endocrinopathies; Feeding. Feeding behavior; Follow-Up Studies; Fundamental and applied biological sciences. Psychology; Humans; Hydrocortisone - therapeutic use; Infant; Male; Medical sciences; Middle Aged; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Patient Selection; Steroid 21-Hydroxylase - genetics; Testicular Neoplasms - enzymology; Testicular Neoplasms - epidemiology; Testicular Neoplasms - genetics; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Vertebrates: endocrinology; Young Adult
• ISSN: 0021-972X; 1945-7197
• DOI: 10.1210/jc.2009-1929

Context: Patients with 21-hydroxylase deficiency (21-OHD) have been shown to develop adrenal adenomas and, in males, testicular adrenal rest tumors (TARTs) at a high percentage. Objective: The aim of this study was to evaluate the interrelation of adrenal masses and TARTs as well as factors stimulating tumor growth of orthotopic and ectopic adrenal tissue in 21-OHD. Design: In a cross-sectional study, 26 adult male patients with classic 21-OHD (15 salt wasting, 11 simple virilizing; age range, 18–48 yr) were clinically assessed according to their hormonal control. Magnetic resonance imaging of the adrenals (26 of 26) and of the testes (18 of 26) was performed. Adrenal size and morphology was compared to 26 age-matched controls. Results: Combined adrenal volume of 21-OHD patients was significantly higher (median, 9.3 ml; range, 3.2–124.5 ml) in comparison to controls (median, 7.4 ml; range, 5.5–10.8 ml; P = 0.005). Morphologically, adrenals were classified as normal without nodules in 27% of 21-OHD patients compared to 69% of controls. None of the controls, but 42% of 21-OHD patients had an overall adrenal volume higher than 11 ml. Ten of 18 patients had TARTs with a median volume of 3.3 ml (range, 0.4–21.6 ml). Total adrenal volume and tumor size but not TART volume correlated positively with current parameters of hormonal control (androstenedione, morning 17-OHP in serum, pregnanetriol in 24-h urine; P < 0.001 for each). Baseline ACTH was independent of adrenal and TART volume. There was no correlation of total adrenal or adrenal tumor size with TART volume. Conclusion: These data provide indirect evidence that different factors regulate the growth of orthotopic adrenal tissue and ectopic adrenal remnants in TARTs. Adrenal size but not testicular adrenal rest tumor volume correlates with hormonal control parameters in 21-OHD most likely reflecting different functional characteristics of orthotopic and ectopic adrenal tissue in 21-OHD.