Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 11, 2013, Pages

  Reisch, Nicole ^a   Rottenkolber, Marietta ^b   Greifenstein, Anais ^a   Krone, Nils ^c   Schmidt, Heinrich ^a   Reincke, Martin ^a   Schwarz, Hans Peter ^a   Beuschlein, Felix ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYPROGESTERONE; PREGNANETRIOL;

ADRENAL TUMOR; ADULT; ARTICLE; BODY HEIGHT; BODY MASS; BONE AGE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DEVELOPMENTAL STAGE; DISEASE ASSOCIATION; DISEASE CONTROL; DISEASE DURATION; ECHOGRAPHY; HAIR GROWTH; HORMONE BLOOD LEVEL; HUMAN; LONGITUDINAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; PROGNOSIS; SALT WASTING; STEROID 21 MONOOXYGENASE DEFICIENCY; TESTICULAR ADRENAL REST TUMOR; TESTIS DEVELOPMENT; TESTIS TUMOR; VIRILIZATION;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; ADRENAL REST TUMOR; ADULT; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FOLLOW-UP STUDIES; GLUCOCORTICOIDS; HUMANS; INFANT; INFERTILITY, MALE; LONGITUDINAL STUDIES; MALE; PREGNANETRIOL; RETROSPECTIVE STUDIES; TESTICULAR NEOPLASMS;

EID: 84887485779     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3181     Document Type: Article

References (32)

1. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005;365: 2125-2136.
2. Reisch N, Arlt W, Krone N. Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res Paediatr. 2011;76: 73-85.
3. Stikkelbroeck NM, Otten BJ, Pasic A, et al. High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2001;86: 5721-5728.
4. Reisch N, Flade L, Scherr M, et al. High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2009;94: 1665-1670.
5. Hamwi GJ, Gwinup G, Mostow JH, Besch PK. Activation of testicular adrenal rest tissue by prolonged excessiveACTHproduction. J Clin Endocrinol Metab. 1963;23: 861-869.
6. Claahsen-van der Grinten HL, Otten BJ, Sweep FC, et al. Testicular tumors in patients with congenital adrenal hyperplasia due to 21- hydroxylase deficiency show functional features of adrenocortical tissue. J Clin Endocrinol Metab. 2007;92: 3674-3680.
7. Bercovici JP, Fiet J, Gibault L, et al. Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies). J Steroid Biochem Mol Biol. 2005;93: 67-72.
8. Combes-Moukhovsky ME, Kottler ML, Valensi P, Boudou P, Sibony M, Attali Jr. Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1994;79: 1390-1394.
9. Blumberg-Tick J, Boudou P, Nahoul K, Schaison G. Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins. J Clin Endocrinol Metab. 1991;73: 1129-1133.
10. Claahsen-van der Grinten HL, Otten BJ, Sweep FC, Hermus AR. Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors. Fertil Steril. 2007;88: 705.e5-e8.
11. Collet TH, Pralong FP. Reversal of primary male infertility and testicular adrenal rest tumors in salt-wasting congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2010;95: 2013-2014.
12. Claahsen-van der Grinten HL, Sweep FC, Blickman JG, Hermus AR, Otten BJ. Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol. 2007;157: 339-344.
13. Reisch N, Scherr M, Flade L, et al. Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2010;95: 2065-2072.
14. Claahsen-van der Grinten HL, Hermus AR, Otten BJ. Testicular adrenal rest tumours in congenital adrenal hyperplasia. Int J Pediatr Endocrinol. 2009;2009:624823.
15. Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95: 4133-4160.
16. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab. 2002;87: 4048-4053.
17. Knorr D, Bidlingmaier F, Kuhnle U. Diagnosis and monitoring of therapy of the various enzymatic defects causing congenital adrenal hyperplasia by semiautomatic capillary gas-liquid chromatography. Horm Res. 1982;16: 201-208.
18. Prader A, Largo RH, Molinari L, Issler C. Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. Helv Paediatr Acta Suppl. 1989; 52: 1-125.
19. Cole TJ, BellizziMC,FlegalKM,DietzWH.Establishing a standard definition for child overweight and obesity worldwide: international survey. BMJ. 2000;320: 1240-1243.
20. Cleveland WS. LOWESS: A program for smoothing scatterplots by robust locally weighted regression. Am Stat. 1981;35:54.
21. Zeger SL, Liang KY. Longitudinal data analysis for discrete and continuous outcomes. Biometrics. 1986;42: 121-130.
22. Val P, Swain A. Gene dosage effects and transcriptional regulation of early mammalian adrenal cortex development. Mol Cell Endocrinol. 2010;323: 105-114.
23. Claahsen-van der Grinten HL, Otten BJ, StikkelbroeckMM,Sweep FC, Hermus AR. Testicular adrenal rest tumours in congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009;23: 209-220.
24. Val P, Jeays-Ward K, Swain A. Identification of a novel population of adrenal-like cells in the mammalian testis. Dev Biol. 2006;299: 250-256.
25. Shiroishi T, Sagai T, Natsuume-Sakai S, Moriwaki K. Lethal deletion of the complement component C4 and steroid 21-hydroxylase genes in the mouse H-2 class III region, caused by meiotic recombination. Proc Natl Acad Sci USA. 1987;84: 2819-2823.
26. Riepe FG, Tatzel S, Sippell WG, Pleiss J, Krone N. Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice. Endocrinology. 2005;146: 2563-2574.
27. Tajima T, Ma XM, Bornstein SR, Aguilera G. Prenatal dexamethasone treatment does not prevent alterations of the hypothalamic pituitary adrenal axis in steroid 21-hydroxylase deficient mice. Endocrinology. 1999;140: 3354-3362.
28. Bornstein SR, Tajima T, Eisenhofer G, Haidan A, Aguilera G. Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice. FASEB J. 1999;13: 1185-1194.
29. Tajima T, Okada T, Ma XM, Ramsey W, Bornstein S, Aguilera G. Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochrome P450 21-hydroxylase into the adrenal gland of 21-hydroxylase-deficient mice. Gene Ther. 1999;6: 1898-1903.
30. Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ. Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic andMRfeatures. Eur Radiol. 2003;13: 1597-1603.
31. Greulich WW, Pyle ID. Radiographic atlas of skeletal development of the hand and wrist, 2nd ed. Stanford, CA: Stanford University Press; 1959.
32. RCoreTeam. (2013) R:ALanguage and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria. (http://www.R-project. org).