Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation

International Journal of Andrology

Volumn 33, Issue 3, 2010, Pages 521-527

  Mouritsen, Annette ^a   Jørgensen, Niels ^a   Main, Katharina M ^a   Schwartz, Marianne ^a   Juul, Anders ^a  

^a Rigshospitalet   (Denmark)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia; CYP21 genotype; Testicular adrenal rest tumour

Indexed keywords

CYTOCHROME P450 CYP21A2; DEXAMETHASONE; FOLLITROPIN; HYDROCORTISONE; INHIBIN; LUTEINIZING HORMONE; PREDNISOLONE; STEROID 21 MONOOXYGENASE; TESTOSTERONE; UNCLASSIFIED DRUG;

ADOLESCENT; ADRENAL CORTEX TUMOR; ADULT; ARTICLE; BLOOD ANALYSIS; CHILD; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ECHOGRAPHY; ENZYME ACTIVITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HUMAN; MALE; MALE GENITAL SYSTEM EXAMINATION; MUTATIONAL ANALYSIS; NULL ALLELE; PRIORITY JOURNAL; SCHOOL CHILD; STEROID 21 MONOOXYGENASE DEFICIENCY; TESTIS TUMOR;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADRENAL REST TUMOR; ADULT; GENES; GENOTYPE; HUMANS; MALE; MUTATION; STEROID 21-HYDROXYLASE; TESTIS;

EID: 77951905001     PISSN: 01056263     EISSN: 13652605     Source Type: Journal    
DOI: 10.1111/j.1365-2605.2009.00967.x     Document Type: Article

References (18)

1. Andersson, A. M., Juul, A., Petersen, J. H., Muller, J., Groome, N. P. Skakkebaek, N. E. (1997) Serum inhibin B in healthy pubertal and adolescent boys: relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels. Journal of Clinical Endocrinology and Metabolism 82, 3976 3981.
2. Avila, N. A., Premkumar, A., Shawker, T. H., Jones, J. V., Laue, L. Cutler, G. B., Jr. (1996) Testicular adrenal rest tissue in congenital adrenal hyperplasia: findings at Gray-scale and color Doppler US. Radiology 198, 99 104.
3. Claahsen-van der Grinten, H. L., Otten, B. J., Sweep, F. C., Span, P. N., Ross, H. A., Meuleman, E. J. Hermus, A. R. (2007a) Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue. Journal of Clinical Endocrinology and Metabolism 92, 3674 3680.
4. Claahsen-van der Grinten, H. L., Sweep, F. C., Blickman, J. G., Hermus, A. R. Otten, B. J. (2007b) Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. European Journal of Endocrinology, 157, 339 344.
5. Clark, R. V., Albertson, B. D., Munabi, A., Cassorla, F., Aguilera, G., Warren, D. W., Sherins, R. J. Loriaux, D. L. (1990) Steroidogenic enzyme activities, morphology, and receptor studies of a testicular adrenal rest in a patient with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 70, 1408 1413.
6. Cutfield, R. G., Bateman, J. M. Odell, W. D. (1983) Infertility caused by bilateral testicular masses secondary to congenital adrenal hyperplasia (21-hydroxylase deficiency). Fertility and Sterility, 40, 809 814.
7. Lenz, S., Giwercman, A., Elsborg, A., Cohr, K. H., Jelnes, J. E., Carlsen, E. Skakkebaek, N. E. (1993) Ultrasonic testicular texture and size in 444 men from the general population: correlation to semen quality. European Urology, 24, 231 238.
8. Martinez-Aguayo, A., Rocha, A., Rojas, N., Garcia, C., Parra, R., Lagos, M., Valdivia, L., Poggi, H. Cattani, A. (2007) Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 92, 4583 4589.
9. Mouritsen, A., Juul, A. Jørgensen, N. (2009) Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours. International Journal of Andrology Epub ahead of print Schwartz, M. (1999) Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21. Human Mutation 13, 385 389.
10. Otten, B. J., Stikkelbroeck, M. M., Claahsen-van der Grinten, H. L. Hermus, A. R. (2005) Puberty and fertility in congenital adrenal hyperplasia. Endocr Dev 8, 54 66.
11. Reisch, N., Flade, L., Scherr, M., Rottenkolber, M., Pedrosa, G. F., Bidlingmaier, M. et al. (2009) High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism Epub ahead of print Keating, M. A. (2000) Leydig cell tumors and tumors associated with congenital adrenal hyperplasia. Urologic Clinics of North America 27, 519 528.
12. Rutgers, J. L., Young, R. H. Scully, R. E. (1988) The testicular "tumor" of the adrenogenital syndrome. A report of six cases and review of the literature on testicular masses in patients with adrenocortical disorders. American Journal of Surgical Pathology 12, 503 513.
13. Srikanth, M. S., West, B. R., Ishitani, M., Isaacs, H., Jr., Applebaum, H. Costin, G. (1992) Benign testicular tumors in children with congenital adrenal hyperplasia. Journal of Pediatric Surgery 27, 639 641.
14. Stikkelbroeck, N. M., Otten, B. J., Pasic, A., Jager, G. J., Sweep, C. G., Noordam, K. Hermus, A. R. (2001) High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 86, 5721 5728.
15. Vanzulli, A., DelMaschio, A., Paesano, P., Braggion, F., Livieri, C., Angeli, E., Tomasi, G., Gatti, C., Severi, F. Chiumello, G. (1992) Testicular masses in association with adrenogenital syndrome: US findings. Radiology 183, 425 429.
16. Wedell, A., Thilen, A., Ritzen, E. M., Stengler, B. Luthman, H. (1994) Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. Journal of Clinical Endocrinology and Metabolism 78, 1145 1152.
17. Wilkins, L., Fleischmann, W. Howard, J. E. (1940) Macrogenitosomia precox associated hyperplasia of the adrogenic tissue of the adrenal and death from corticoadrenal insufficiency. Case report. Endocrinology 26, 385 395.
18. Willi, U., Atares, M., Prader, A. Zachmann, M. (1991) Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: detection by ultrasonography. Pediatric Radiology, 21, 284 287.