ECE2013 Poster Presentations Adrenal cortex (64 abstracts)
The diagnosis of nonclassical congenital adrenal hyperplasia due to 21 hydroxylase deficiency in woman can be established by genetic testing or urine steroid profile analysis but not by ACTH stimulation test
Urszula Ambroziak 1 , Anna Kepczynska-Nyk 1 , Karolina Nowak 1 , Ewa Maria Malunowicz 2 , Emilia Morawska 3 , Michal Kunicki 4 & Tomasz Bednarczuk 1
1Depatment of Endocrinology, Warsaw Medical University, Warsaw, Poland; 2Department of Biochemistry and Experimental Medicine, Children’s Memorial Health Institute, Warsaw, Poland; 3Student Endocrine Circle, Warsaw Medical Univeristy, Warsaw, Poland; 4Invicta Fertility Clinic, Warsaw, Poland.
Backgroud: ACTH stimulation test is considered the basic diagnostic tool in the diagnosis of nonclassical congenital adrenal hyperplasia due to 21 hydroxylase deficiency (CAH). The cut off of 17OHP stimulation recommended for diagnosis is 10 ng/ml.
Aim: To assess whether the recommended threshold of 17OHP after ACTH stimulation confirms nonclassical CAH among woman with hyperandrogenism and elevated basal 17OHP level.
Material and Methods: Twenty-seven women age 18–38 years with hyperandrogenism and suspicion of nonclassical CAH based on basal 17-OHP level above 1.7 ng/ml. All patients were ACTH stimulation test performed. If the level of 17-OHP stimulation reached 10 ng/ml or more the genetic testing for CYP21A2 mutation and/or urine steroid profile analysis (GS/MS) was done to confirm the diagnosis.
Results: The median basal 17-OHP level was 4 ng/ml (1.8–14). The pick median 17-OHP level after ACTH stimulation was 11.29 ng/ml (2.97–30). Among eight patients with 17-OHP stimulation >10 ng/ml (11.26–30) two nonclassical CAH were confirmed (17-OHP basal level was 14 and 13.75 ng/ml, after ACTH stimulation 15 and 16 ng/ml respectively). The urine steroid profile analysis in the rest six patients didn’t confirm the diagnosis of nonclassical CAH. Three of them had genetic testing performed and were diagnosed as heterozygotes.
Conclusions: The diagnosis of nonclassical CAH based on threshold 10 ng/ml of 17-OHP stimulation after ACTH can lead to false positive diagnosis of nonclassical CAH and often unnecessary glucocorticoid introduction. The definitive diagnosis can be established based on genetic testing or urine steroid profile.
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Endocrine Abstracts
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