Endocrine Abstracts

JOINT3917

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, most commonly caused by 21-hydroxylase deficiency (21-OHD). Chronic androgen excess in CAH patients accelerate epiphyseal maturation, and may cause early puberty and epiphyseal fusion which negatively affects growth potential. While conventional therapies help to manage hormonal imbalances, alternative therapies may optimize growth outcomes. This study aimed to evaluate the effects of additional treatment strategies on final height in CAH patients.

Methods: We retrospectively reviewed records of 57 patients (F/M=31/26) with molecularly confirmed classical CAH due to 21-OHD. Among these, 38 patients with predicted adult height (PAH) shorter than target height (TH), due to early puberty and/or advanced bone age, received additional therapies, including anastrozole, cyproterone acetate, GnRHa, and growth hormone (GH) (Group 1). The remaining patients received only conventional hydrocortisone/mineralocorticoid therapy (Group 2). Anthropometric data were compared between groups.

Results: The median age at diagnosis of CAH was 0.1 (range:0–10.3) years and; age at the initiation of alternative therapies in group 1 was 9.2 (range:4.6–11.1) years. In Group 1, 55% received cyproterone acetate, 45% anastrozole, 77.5% GnRHa, and 15% GH. The median treatment duration in Group 1 was 2.3 (range:0.6–7.3) years. Thirty-two patients (82.4%) in Group 1 and 11 (64%) in Group 2 have reached adult height. A significant difference in pre-treatment height SDS was observed between the groups (0.97 [range:−1,1 to 5.3] vs. 0.64 [range:−1.5 to 2.7], respectively; P=0.02), with an accelerated somatic growth noted in Group 1. Before alternative therapies, the median PAH SDS was −1.5 (range:−5.5 to 1.9) in Group 1 and −2.3 (range:−4.3 to 3.7) in Group 2, with no significant difference. As expected, the bone age/chronological age ratio before treatment was significantly higher in Group 1 (1.3 [range 1–2.5] vs. 1.0 [range 1.3–1.1], P<0.001) with accelerated somatic growth. The comparison of the difference between target height SDS and final height SDS revealed a median of 0.8 (range:−2.8 to 2.4) in Group 1 and 0.1 (range:−2.6 to 2.5) in Group 2, with no statistical significant difference. Final height SDS was −1.5 (range:−3.9 to 0.9) in Group 1 and −1.5 (range:−4.2 to 1.4) in Group 2. It was similar in both groups, and somatic growth acceleration regressed with alternative therapies.

Conclusion: Our data suggest growth-promoting therapies such as aromatase inhibitors, cyproterone acetate, GH and GnRHa appear to be effective in enhancing adult height in appropriately selected cases.