Pituitary gonadal axis and child rate in males with classical 21-hydroxylase deficiency

Though appropriate glucocorticoid substitution therapy should abolish both cortisol deficiency and adrenal androgen excess in patients with 21-hydroxy lase deficiency (21-OHD), the longterm outcome is not always satisfactory. There are several reports on low adult height in both male and female patie nts, and impaired fertility has been reported in females with 21-OHD. There are only few reports on gonadal function of adult male patients with 21-OH D. In this study, we calculated the child rate of all the 29 diagnosed adul t Finnish males with classical 21-OHD and compared it with the mean child r ate of the whole Finnish male population with equal age distribution. Sixte en males with 21-OHD and their age-matched healthy controls were further ex amined in a cross-sectional study. Auxology and pituitary gonadal axis were examined in both patients and controls. Testicular ultrasonography of the patients was also performed. The mean child rate of the 29 males with 21-OH D was 0.07 which was significantly lower (p<0.001) than that in the Finnish male population of the same age (0.34). In the cross-sectional study, male s with 21-OHD had serum testosterone, inhibin B, LH and FSH concentrations comparable to those of healthy controls and reference values. Serum DHEA-S concentrations were remarkably low, even in the undersubstituted males with 21-OHD (p<0.001, compared with the healthy controls). In the patient group , serum inhibin B concentration did not correlate with serum FSH concentrat ion. Adrenal rest tumors of the testicles were found in two undersubstitute d males with 21-OHD. In conclusion, our study suggests normal pituitary and gonadal function but reduced child rate in adult males with 21-OHD. This m ight be explained by suboptimal psychosocial adaptation to the chronic dise ase. However, the patients in this study were young and the final child rat e may become essentially higher. (C) 2000, Editrice Kurtis.