Endocrine Abstracts

Introduction: Evidence in the management of children with non-classical congenital adrenal hyperplasia (NCCAH) is limited. We describe the clinical presentations and treatment of NCCAH patients under a tertiary paediatric endocrine centre.

Results: Data collected [reported in median(ranges)] identified 10(7M,3F) cases of NCCAH [21-hydroxylase deficiency(21-OHD)(n=9), 11-deoxycortisol deficiency(n=1)], aged 5.4(1.4–9.5) years at presentation. None had concurrent medical problems/treatment affecting steroid status. One asymptomatic male with a sibling with 21OHD, was diagnosed via genetics screening. 9 had bone age advancement (3.2(1.9–5.9) years), and >1 secondary sexual characteristic(s) at presentation: pubarche(n=9), testicular enlargement(>4 mL) (n=2/7 M), breast development(n=2/3 F), premature menarche(<aged 9y) (1/3 F). One female had clitoromegaly, labial fusion, but otherwise normal anatomy. At diagnosis, all had raised baseline 17-OHP(>3 nmol/L) of 56.2 (3.8–293) nmol/L, and a positive urine steroid profile (8/10) and/or positive genetics results (8/10). Synacthen stimulation tests (SST) reported 3 adrenal insufficiency (AI) (cortisol<300 mol/L), 3 partial adrenal insufficiency (pAI) (cortisol 300–420 nmol/L), 2 normal results. 7 patients (AI=3, pAI=2, normal SST=3) were started on daily hydrocortisone of 8.7(6.3–16) mg/m2/day at diagnosis. 1(F), post menarche at presentation and otherwise asymptomatic, was on sickness cover (30 mg/m2/day) for pAI (diagnosis SST peak cortisol 339 nmol/L, 408 nmol/L 1 year later). 1(M) initially on sickness cover for pAI needed maintenance HC after deterioration of SST (peak cortisol 257 to 88 nmol/L). 1(F) presented with pubarche and bone age advancement, had a normal SST requiring no steroids cover. She declined GnRHa for rapid pubertal progression, developed secondary amenorrhoea and was treated on Dianette. Positive LHRH tests for precocious puberty were reported in 3(2M,1F), 2(M) received GnRH analogues until 12y, and 1(F) post menarche was not treated.

Discussion: NCCAH in children often presents with adrenarche and bone age advancement. Testing of cortisol status is essential illustrated by the high prevalence of AI in our cohort. Steroid replacement is needed in patients with AI and should be considered if still growing with bone age advancement. However, the optimal dose requires further research.