Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome.

OBJECTIVE: The management of children with congenital adrenal hyperplasia (CAH) remains a challenge, especially with regard to growth potentials. The objective of our analysis was to uncover the factors that influence the growth and final height of patients with CAH.
DESIGN: The linear growth pattern and body mass index (BMI) at different developmental stages (birth to 2 years, 2 years to puberty initiation and puberty initiation to final height) and the final height achieved were analysed retrospectively in 48 patients with 21-hydroxylase deficiency; 17 with the salt-wasting (SW) form, 25 with the simple virilizing (SV) and six with the nonclassical (NC) form.
RESULTS: Mean final height (FH) and FH-SDS were, respectively, 170.8 +/- 5.6 m and -0.57 +/- 0.8 in males and 156.7 +/- 6 cm and -0.61 +/- 1 in females with the SW form, 166.1 +/- 6.1 cm and -1.05 +/- 1 in males and 151.6 +/- 5.4 cm and -1.4 +/- 1 in females with the SV form and 159.7 +/- 6.9 cm and 0.3 +/- 1.4 in females with the NC form. In subjects with the SW form, height SDS at 2 years, at puberty initiation and at FH were -0.18 +/- 0.9, 0.11 +/- 1.28 and -0.6 +/- 1.0, respectively. FH achieved was not different from target height (TH) in the SW group, but it was significantly lower than TH in the SV group (P = 0.003). FH in the SW group showed a positive correlation to the height achieved at 2 years of age (r = 0.68, P = 0.019), and height at 2 years was negatively related to the hydrocortisone dose in the birth to 2-year period (r = -0.79, P = 0.011). FH showed no correlation to hydrocortisone dose at any of the three developmental periods studied. BMI-SDS were not different in the various forms of CAH and showed no correlation to FH or hydrocortisone dose. Age at menarche was comparable to that in our general population.
CONCLUSIONS: Under our conditions of management, the final height of patients with the salt-wasting form was comparable to the target height and to the most favourable literature data. The patients with the simple virilizing form fare less well, mainly due to delayed diagnosis and consequent advancement of bone age and early puberty. In salt-wasting patients, height at 2 years is comparable to normals, it is influenced by the hydrocortisone dose and is related to the final height. Some height is lost during puberty. Hence, monitoring treatment over the first 2 years and during puberty is critical for the outcome in these patients.