Long Term Outcome in Adult Males with Classic Congenital Adrenal Hyperplasia 1

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 ...