ESPE Abstracts (2014) 82 P-D-1-3-21

How to Interpret Cortisol Responses to Acth in Patients with Non-Classic Congenital Adrenal Hyperplasia

M Belen Roldan Martin, Yoko Oyakawa Barcelli, Raquel Barrio Castellanos, Maria Martin Frias, Daniel Alonso Martin & Milagros Alonso Blanco


Hospital Universitario Ramon y Cajal, Madrid, Madrid, Spain


Background: Recent clinical guidelines recommend that all patients with non-classic congenital adrenal hyperplasia (NCCAH) on glucocorticoid therapy (GC) need to be informed about stress doses and suggest the use of GC in the subgroup of patients with low cortisol response during periods of stress even though they are not on GC.

Objective and Hypotheses: To study the response of cortisol to ACTH 250 μg i.v. (Synacthen®, Novartis) in patients with NCCAH and to evaluate the need of GC in periods of stress in patients with subnormal response of cortisol to the test.

Method: Descriptive, retrospective study in 46 patients with NCCAH.

Results: The ACTH test was performed in 44/46 patients with NCCAH. Cortisol response to ACTH was determined in 34 patients. Nine patients (26%) had a response of cortisol <18 μg/dl and eight of them were treated with hydrocortisone. According to previous clinical guidelines for NCCAH, the patients on substitutive doses of GC did not use GC stress doses and they all tolerated well infectious or stress situations.

Table 1.
CasesAge at dx (years)17OHP (0’) (ng/ml)17OHP (60’)Cortisol (0’) (μg/dl)Cortisol (60’)Genotype
110.617>2513.516.1p.Val282Leu/p.Ile173Asn
2524.3>259.6616.05p.Val282Leu/p.Arg357Trp
34.71911.897.712p.Val282Leu/p.Ile173Asn
48.814.149.98.611.2p.Val282Leu/p.Ile173Asn
59.537.64513.115.03p.Val282Leu/655G
66.25.649.96.4911.5p.Val282Leu/p.Arg357Trp
7916.932.414.517.1p.Val282Leu /p.Arg357Trp
86.540.881.67.198.57‘Polimorph’ c.735GTA/del-conv
97.38.231.912.517.8p.Val282Leu/del-conv exon3-4

Conclusion: About one third of our patients with NCCAH presented subnormal response of cortisol to ACTH. The patients did not present signs or symptoms of an adrenal crisis during periods of stress. The need of increased doses of GC in patients without significantly suppressed adrenal function may require confirmation in larger series of patients.

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