Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.
Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.
Method: Retrospective study, comparing cortisol response after tetracosactide test (250 μg) in NCCAH patients and a control group (CG) with precocious pubarche and 17OHP response <3 ng/ml. NCCAH diagnosis was confirmed by genotyping. Adequate cortisol response was defined as a peak level ≥18 μg/dl.
Results: NCCAH patients were included (26 girls and eight boys). Mean age at test: 7.0 years old (0.815.6). The CG consisted in 47 children (39 girls and eight boys), mean age: 7.2 years old (0.59.9). Basal cortisol in NCCAH patients was 12.8 μg/dl (4.322.2) vs 9.7 (4.216.2) in the CG (P=0.0006). Cortisol peak in NCCAH patients was 18.0 μg/dl (6.340) vs 24.9 (1230.3) in the CG (P<0.0001). 21/34 of NCCAH patients (61.8%) had a low cortisol peak level, vs 1/47 in the CG (2.1%), with similar response between affected siblings. None of the NCCAH patients had symptoms of adrenal insufficiency, but some reported fatigue which improved under hydrocortisone treatment. Presence of one allele with severe mutation was not predictive of cortisol response.
Conclusion: We noted a suboptimal cortisol response in 61.8% of NCCAH patients. There is no current consensus regarding glucocorticoid replacement therapy in untreated NCCAH patients. We propose hydrocortisone treatment in case of stress, surgery, acute illness or fatigue in NCCAH patients with an insufficient cortisol peak following tetracosactide test. Fatigue should be objectively documented, and in case of introduction of hydrocortisone treatment, re-evaluation is necessary for assessment of its efficacy.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology