This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Purchase Article View Shopping Cart Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Cabrera, M. S. Articles by New, M. I. Search for Related Content PubMed PubMed Citation Articles by Cabrera, M. S. Articles by New, M. I.

Long Term Outcome in Adult Males with Classic Congenital Adrenal Hyperplasia¹

Department of Pediatrics, New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, New York 10021

Address all correspondence and requests for reprints to: Maria I. New, M.D., Department of Pediatrics, Division of Pediatric Endocrinology, New York Presbyterian Hospital-Weill Medical College, 525 East 68th Street, Room M-622, New York, New York 10021. E-mail: minew{at}med.cornell.edu

Abstract

The effects of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency on final height and fertility were evaluated in 30 affected males, aged 17–43 yr. The mean adult height of these patients was 165.64 ± 8.4 cm (mean ± SD), with a mean SD score of -1.65 ± 1.2 cm. The difference between the mean final height SD score and mean target height SD score was -1.67 ± 1.0 cm. All patients had short stature and did not reach their estimated target heights. There was no difference in height SD score between the salt-wasting and simple virilizing CAH patients. No correlation between the final height and degree of hormonal control or bone age advancement was observed.

Of the 30 subjects, 18 had testicular sonograms. Abnormal sonogram findings of testicular adrenal rests were present in 9 patients (group 1), whereas sonogram without adrenal rests comprised the remaining 9 patients (group 2). In group 1, 8 of 9 patients and in group 2, 4 of 9 patients were salt-wasters; the remainder were simple virilizers. In group 1, 7 of 9 patients had semen analysis, and all were judged infertile. Of the 6 patients in group 2 who had semen analysis, 1 was azoospermic, and the remainder were normal. During optimal adrenal hormone suppression, gonadotropins at baseline and after GnRH stimulation were significantly higher in group 1 than in group 2, reflecting the loss of Leydig cell function to secrete testosterone.

In conclusion, adult males affected with CAH due to 21-hydroxylase deficiency do not achieve the height predicted from parental heights. The presence of adrenal rests within the testes of adult males with classic CAH are more frequent in the salt-wasting form and are associated with a higher risk for infertility.

This article has been cited by other articles:

				D. P. Merke Approach to the Adult with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., March 1, 2008; 93(3): 653 - 660. [Abstract] [Full Text] [PDF]

				M. Doghman, T. Karpova, G. A. Rodrigues, M. Arhatte, J. De Moura, L. R. Cavalli, V. Virolle, P. Barbry, G. P. Zambetti, B. C. Figueiredo, et al. Increased Steroidogenic Factor-1 Dosage Triggers Adrenocortical Cell Proliferation and Cancer Mol. Endocrinol., December 1, 2007; 21(12): 2968 - 2987. [Abstract] [Full Text] [PDF]

				H. L. Claahsen-van der Grinten, B. J. Otten, F. C. G. J. Sweep, P. N. Span, H. A. Ross, E. J. H. Meuleman, and A. R. M. M. Hermus Testicular Tumors in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Show Functional Features of Adrenocortical Tissue J. Clin. Endocrinol. Metab., September 1, 2007; 92(9): 3674 - 3680. [Abstract] [Full Text] [PDF]

				W. Bonfig, S. Bechtold, H. Schmidt, D. Knorr, and H. P. Schwarz Reduced Final Height Outcome in Congenital Adrenal Hyperplasia under Prednisone Treatment: Deceleration of Growth Velocity during Puberty J. Clin. Endocrinol. Metab., May 1, 2007; 92(5): 1635 - 1639. [Abstract] [Full Text] [PDF]

				P. Sartorato, E. Zulian, S. Benedini, B. Mariniello, F. Schiavi, F. Bilora, G. Pozzan, N. Greggio, A. Pagnan, F. Mantero, et al. Cardiovascular Risk Factors and Ultrasound Evaluation of Intima-Media Thickness at Common Carotids, Carotid Bulbs, and Femoral and Abdominal Aorta Arteries in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., March 1, 2007; 92(3): 1015 - 1018. [Abstract] [Full Text] [PDF]

				H. L. Claahsen-van der Grinten, B. J. Otten, S. Takahashi, E. J. H. Meuleman, C. Hulsbergen-van de Kaa, F. C. G. J. Sweep, and A. R. M. M. Hermus Testicular Adrenal Rest Tumors in Adult Males with Congenital Adrenal Hyperplasia: Evaluation of Pituitary-Gonadal Function before and after Successful Testis-Sparing Surgery in Eight Patients J. Clin. Endocrinol. Metab., February 1, 2007; 92(2): 612 - 615. [Abstract] [Full Text] [PDF]

				M. I. New Nonclassical 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., November 1, 2006; 91(11): 4205 - 4214. [Abstract] [Full Text] [PDF]

				W. H. Nagamine, S. V. Mehta, and A. Vade Testicular Adrenal Rest Tumors in a Patient With Congenital Adrenal Hyperplasia: Sonographic and Magnetic Resonance Imaging Findings J. Ultrasound Med., December 1, 2005; 24(12): 1717 - 1720. [Full Text] [PDF]

				K. Lin-Su, M. G. Vogiatzi, I. Marshall, M. D. Harbison, M. C. Macapagal, B. Betensky, S. Tansil, and M. I. New Treatment with Growth Hormone and Luteinizing Hormone Releasing Hormone Analog Improves Final Adult Height in Children with Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., June 1, 2005; 90(6): 3318 - 3325. [Abstract] [Full Text] [PDF]

				M. G. Forest Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency Hum. Reprod. Update, November 1, 2004; 10(6): 469 - 485. [Abstract] [Full Text] [PDF]

				A. Balsamo, A. Cicognani, L. Baldazzi, M. Barbaro, F. Baronio, M. Gennari, M. Bal, A. Cassio, K. Kontaxaki, and E. Cacciari CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., December 1, 2003; 88(12): 5680 - 5688. [Abstract] [Full Text] [PDF]

				P. W. Speiser and P. C. White Congenital Adrenal Hyperplasia N. Engl. J. Med., August 21, 2003; 349(8): 776 - 788. [Full Text] [PDF]

				G. Pinto, V. Tardy, C. Trivin, C. Thalassinos, S. Lortat-Jacob, C. Nihoul-Fekete, Y. Morel, and R. Brauner Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management J. Clin. Endocrinol. Metab., June 1, 2003; 88(6): 2624 - 2633. [Abstract] [Full Text] [PDF]

				A. Tiitinen and M. Valimaki Primary Infertility in 45-Year-Old Man with Untreated 21-Hydroxylase Deficiency: Successful Outcome with Glucocorticoid Therapy J. Clin. Endocrinol. Metab., June 1, 2002; 87(6): 2442 - 2445. [Abstract] [Full Text] [PDF]

				E. Charmandari, S. M. Pincus, D. R. Matthews, A. Johnston, C. G. D. Brook, and P. C. Hindmarsh Oral Hydrocortisone Administration in Children with Classic 21-Hydroxylase Deficiency Leads to More Synchronous Joint GH and Cortisol Secretion J. Clin. Endocrinol. Metab., May 1, 2002; 87(5): 2238 - 2244. [Abstract] [Full Text] [PDF]

				K. Moritz, A. Butkus, V. Hantzis, A. Peers, E. M. Wintour, and M. Dodic Prolonged Low-Dose Dexamethasone, in Early Gestation, Has No Long-Term Deleterious Effect on Normal Ovine Fetuses Endocrinology, April 1, 2002; 143(4): 1159 - 1165. [Abstract] [Full Text] [PDF]