ESPE Abstracts

Introduction: CAH is a common clinical condition with treatment and follow-up challenges. As a result, the adult height of the cases is known to be affected. We aimed to assess the growth and pubertal development of CAH patients and the factors that influence final height.

Method: Between 1980-2022, 41 patients diagnosed with CAH were observed at our clinic. Only cases that attained the final height were retrospectively analyzed. The following factors were assessed: admission complaints, demographic, clinical features, medical/surgical treatments, subsequent clinical course, laboratory and genetic results, bone age, target, and final heights, and long-term follow-up data. The cases were divided into 2 categories at the analytical stage: those with 21 hydroxylase deficiency and those with 11 beta-hydroxylase deficiency.

Results: Thirty-three (80%) of the cases were being followed up on, with the diagnosis of 21 hydroxylase deficiency and 8 (20%) of the cases having 11 beta-hydroxylase deficiency. 56% of the patients had ambiguous genital structures; 7% had macro genitalia; 10% had vomiting, weakness, and inability to gain weight; and 46% had increased hair growth. The consanguineous marriage occurred 51% of the time, and a similar history in the family occurred 34% of the time. The salt-lasting form was diagnosed in 9 (27%) of the 21 cases with hydroxylase deficiency, the simple-virilizing form in 11 (33%), and the late-onset form in 13 (40%). The age at which puberty started, the height SDS, the final height SDS, and the final height age did not differ statistically between the 2 groups. The height measured at the time of admission had a considerably higher SDS in the 11 beta-hydroxylase group (p:0.013); the target height/height SDS difference was also significantly higher in the 11 beta-hydroxylase group (p:0.004). The height SDS at the onset of puberty negatively correlated with the final height/target height SDS difference (p:0.04/R:-0.497). A negative correlation was discovered between the age of diagnosis and final height (p:0.02/R:-0.369). The final height/target height SDS difference negatively correlated with the target height SDS (p:0.02/R:-0.576), as did the target height/height SDS difference at the time of admission (p:0.03/R:-0.563). In 7(17%) cases, GnRH analog was used due to central puberty praecox.

Conclusion: Patients with CAH should be closely monitored for growth and puberty to achieve a better final height. Late diagnosis, inadequate treatment, and shorter stature at puberty's onset deleteriously impact final stature.