Endocrine Abstracts

Introduction: Non-classic congenital adrenal hyperplasia (NCCAH) is an autosomal recessive disorder, that affects adrenal steroidogenesis, and it is characterized by an enzymatic defect in corticosteroids biosynthesis. NCCAH diagnosis is based on the determination of 17a-hydroxiprogesterone (17a-OHP) basal levels, and levels after stimulation with adrenocorticotropic hormone (ACTH), and it is confirmed with molecular testing. Treatment is still controversial, and it must be individualized because there are not steroid regimens to treat patients with NCCAH.

Objective: This study aims to describe the clinical characteristics, and compares the treatment response in patients with NCCAH that went to endocrinology consultation in a high complexity health institution in Cali, Colombia.

Methods: The study was conducted in a cohort of patients that registered at hospital since January 2006 to December 2016, with one year follow up, collecting 38 patients with NCCAH, diagnosed by clinical suspicion and confirmed with ACTH test. We describe the population and measure the response of 17-OH progesterone, testosterone and dehydroepiandrosterone sulfate (DHEA-S), at 6 and 12 months after treatment with dexamethasone and ethinyl estradiol plus cyproterone acetate. A P<0,05 was considered to establish statistically significant differences.

Results: Of the 38 patients included as total sample, the average age of participants was 25 years (S.D. 8, 9 years), average BMI was 28.3 kg/cm (S.D. 4.3). In the variance analysis we found for 17-OH progesterone levels a median of 15.9 ng/ml (IQR 12–19) at baseline, 1.65 ng/ml (IQR 1.4–3.3) at 6 months and 1.1 ng/ml (IQR 0.73–1.7) at 12 months. Total testosterone levels had a median of 103 ng/dl (IQR 79–138) at baseline, 62 ng/dl (IQR 50–77) at 6 months and 48 ng/dl (IQR 32–59) at 12 months. DHEA-S levels had a median of 452 μg/dl (IQR 370–536) at baseline, 209 μg/dl (IQR 154–306) at 6 months and 144 μg/dl (IQR 105–208) at 12 months, showing a decrease in hormone levels after the beginning of treatment, all statistically significant (P<0.05). Testosterone levels were influenced by BMI (P=0.04).

Conclusion: Pharmacologic intervention with dexamethasone at different doses, added to ethinyl estradiol plus cyproterone acetate, showed favorable results, by decreasing the serum levels of the measured hormones, during all the follow up period with statistically significant difference. Additionally, it was found that the testosterone values are influenced by BMI, without finding any difference in the other variables.