ESPE Abstracts

Introduction: 21-Hydroxylase deficiency (21-OHD) is the archetype of congenital adrenal hyperplasia (CAH). Deficiency of 21-Hydroxylase results in an impairment of cortisol synthesis, which is critical in stressful conditions when higher output is required to restore homeostasis. In addition, an increased androgen production, might results in undesirable manifestations of hyperandrogenism, as menstrual abnormalities, infertility and cosmetic annoyances and growth impairments. Interestingly, heterozygote carriers (HZ) carriers may occasionally manifest some of such conditions.

Objective: Therefore, we aimed to explore physical growth in pre-pubertal children with HZ evaluated by performing an ACTH stimulation test.

Methods: Retrospective data from hospital records of 54 diagnosed pre-pubertal children with heterozygous 21-hydroxylase deficiency and with available clinical data of final height-SDS were analyzed. Anthropometric and laboratory tests including indexes of insulin resistances (HOMA-IR and Triglycerides/HDL ratio values) and bone age were analyzed. Height-SDS changes over time were calculated as delta-height-SDS (final height-SDS - pre-pubertal height-SDS). Thus, the population was divided into terciles according to h delta-height-SDS (1st tertile:<-0.748; 2ndtertile: between -0.748 and 0.001; 3rd tertile >0.001). The main differences across the tertile groups were investigated by Kruskall-Wallis test.

Results: The three tertile groups were similar in terms of age at baseline (8.0, 8.5 and 8.1, years respectively), gender (M/F 3/15, 6/12 and 4/14 respectively) and height-SDS at baseline. Interestingly, Weight-SDS and BMI-SDS and indexes of insulin resistances progressively decreased across the three tertile groups at baseline, showing higher values in the first tertile. Height gain during puberty progressively increased across the three tertiles at baseline, showing higher values in the third tertiles.

Conclusions: In pre-pubertal children with HZ, high values of BMI-SDS, weight-SDS and insulin resistances are related to an impaired height-SDS variation during growth and to a worse height gain during puberty.