Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height.

BACKGROUND

The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed.

METHODS

This multicenter, nationwide web-based study collected data.

RESULTS

The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 μg/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height.

CONCLUSIONS

The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.