ESPE Abstracts (2016) 86 P-P1-16

Cortisol Response to ACTH Stimulation Test in Non-Classical Congenital Adrenal Hyperplasia

Feneli Karachalioua, Maria Kafetzib, Elpis Vlachopapadopouloua, Sophia Leka-Emirisa, Maria Drakopoulouc, Antonia Kapellaa, Aspasia Fotinoub & Stefanos Michalakosa

aEndocrinology Department, P & A Kyriakou children’s Hospital, Athens, Greece; bMicrobiology Department, P & A Kyrakou Children’s Hospital, Athens, Greece; cChoremis Research Laboratory, Agia Sophia Children’s Hospital, Athens, Greece

Background: The adequacy of cortisol response in NCCAH has not been fully elucidated.

Objective and hypotheses: To evaluate cortisol response to ACTH stimulation test in children and adolescents with NCCAH and possible heterozygosity for CYP21 gene molecular defects.

Method: Data of ACTH stimulation test from 146 children and adolescents with clinical hyperandogenism were evaluated retrospectively. Cortisol responses to ACTH stimulation among 43 children with NCCAH (mean age 7.6±2.6) (group 1), 18 children with possible heterozygosity for CYP21 gene molecular defects (mean age: 6.8±2.8) (group 2) and 85 children with normal 60min 17OHP response to ACTH test (mean age 8.2±2,6) (group 3), were compared. NCCAH was detected from a 60 min stimulated 17OHP value >16.6 and <100 ng/ml and was confirmed by genotyping in most of the cases. The possibility of heterozygosity was evaluated from the 17 OHP nomogram in combination with the criterion of the sum of basal and 60 min 17OHP levels >4.9 ng/ml and confirmed by genotyping in a few cases.

Results: There was no difference in baseline cortisol levels among the three groups: (group 1 vs group 2 vs group 3: 15.8 μg/dl ±9.8 vs 13.88 μg/dl ±7.5 vs 14.08 μg/dl ±7.6, P=0.5). However the NCCAH patients (group 1) had lower cortisol peak response compared to the possible carriers (group 2) and the control group (group 3) (29.48 μg/dl ±12.1 vs 37.48 μg/dl ±7.8 vs 34.98 μg/dl ±6.7 μg/dl respectively, P=0.001). Peak cortisol was <18 μg/dl in 6/43 (13.9%) NCCAH patients and in one patient with heterozygosity confirmed by genotyping. All seven patients were on hydrocortisone treatment.

Conclusion: 14% of patients with NCCAH showed inadequate cortisol response to ACTH stimulation. For children with NCCAH and inadequate cortisol response the discontinuation of treatment on completion of growth deserves consideration.

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