Long term outcome in adult males with classic congenital adrenal hyperplasia

The effects of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxyglase deficiency on Gnat height and fertility were evaluated in 30 affected mates, aged 17-43 yr. The mean adult height of these patients was 165.64 +/- 8.4 cm (mean +/- SD), with a mean so score of -1.65 +/- 1.2 cm. The difference between the mean final height so score and mean target height so 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 sn 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, 80 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 GAH are more frequent in the salt-wasting form and are associated with a higher risk for infertility.