GROWTH-PATTERN DURING THE FIRST 36 MONTHS OF LIFE IN CONGENITAL ADRENAL-HYPERPLASIA (21-HYDROXYLASE DEFICIENCY)

The longitudinal growth pattern during the first 36 months of life was studied in 24 patients (17 females) with congenital adrenal hyperplas ia (CAH) due to 21-hydroxylase deficiency by analyzing the mean requir ed daily dose of cortisone with respect to steroid suppression, height and weight growth velocities and bone age maturation. All patients we re treated with cortisone acetate and 9-fluorohydrocortisone. The stan dard deviation score for length (SDS-L), the percentage of ideal body weight (% IBW) and biochemical parameters, 17-hydroxy-progesterone (17 -OHP) and androstenedione (A) were evaluated every 3 months; bone age (BA) was evaluated annually. At diagnosis, the female population of pa tients with respect to the males were younger (chronological age (CA): 15 +/- 14 vs. 45 +/- 16 days, p < 0.005) and had a higher % IBW (91.7 +/- 8.0 vs. 76.3 +/- 16.7%, p < 0.05). At 3 months of age (45 days af ter initiating treatment) the % IBW in males normalized (97 +/- 19%) a nd was similar to that found in females (101 +/- 12.8%). No difference s were noted in SDS-L at the moment of diagnosis (females -1.1 +/- 1.1 vs. males -0.5 +/- 0.7); however, at 3 months of age the SDS-L in fem ales increased (0.41 +/- 0.88, p < 0.005 vs. diagnosis SDS-L) whereas that of males progressively decreased to reach the nadir at 6 months ( -1.41 +/- 0.96). No differences between males and females were noted t hroughout this time with regard to: (a) A or 17-OHP levels (neither of which were suppressed to 'control values'); (b) the dosage of cortiso ne received (13.5-17.8 mg/m(2)/day), and (c) change in BA/CA ratio. In all patients the SDS-target height (TH) correlated with the SDS-L at 2 years (r = 0.74, p < 0.0005) and at 3 years (r = 0.60, p < 0.02) of age. In 12 patients who reached 7 years of age the SDS-L correlated wi th both SDS-predicted adult height (PAH) (r = 0.75, p < 0.001) and SDS -TH (r = 0.80, p < 0.005). Although the commonly accepted definition o f 'good control' for patients with CAH has generally included, in addi tion to adequate suppression of hormone markers, normal growth and ske letal maturation, the present data suggest that normal growth and BA m aturation are the most useful parameters to follow and not necessarily strive for hormone suppression. Early diagnosis and replacement thera py using cortisone doses less than those currently recommended allow n ormal growth within the genetic potential at least for the first 7 yea rs of life.