BSPED2013 Poster Presentations (1) (89 abstracts)
Audit on the characteristics and management of patients in a large tertiary hospital paediatric adrenal clinic
Ailie Knox 2 , Sarah Ehtisham 1 , Peter Clayton 1 , Julie Jones 1 , Elaine O’Shea 1 , Leena Patel 1 , Mars Skae 1 , Indie Banerjee 1 & Raja Padidela 1
1Royal Manchester Childrens Hospital, Manchester, UK; 2University of Manchester, Manchester, UK.
Adrenal insufficiency (Adr-I) and congenital adrenal hyperplasia (CAH) are important conditions requiring specialist attention and management. Recent CAH genotype–phenotype studies have linked mutations with enzyme functioning and disease severity. Accurate diagnosis for the cause of adrenal insufficiency and the genetic cause of CAH is vital as it impacts management and prognosis.
Methods: We audited patients with Adr-I and CAH seen in outpatients from January 2011 to May 2013. Data was collected on diagnosis, auxology and treatment from clinic letters and the specialist nurse database. Genetic reports were obtained from the Molecular Genetics Department.
Results: Of 129 patients with CAH (45% males), 119 had 21-hydroxylase deficiency. 22 patients (18%) were simple virilising and 97 (82%) salt wasting. 14 patients presented late (M=4 years, range 1–13). There were 184 patients with Adr-I which resolved in 47 during the audit period. 22 patients had primary Adr-I (13 Addison’s, 1 AAA syndrome, four adrenoleukodystrophy). 74 patients had Adr-I secondary to exogenous steroid treatment (44 oral, 26 inhaled, four topical), 16 due to CNS pathology (four septo-optic dysplasia, eight CNS tumours, two hypopituitarism, one hypothalamic harmatoma, one meningitis), four had congenital adrenal hypoplasia, three pseudohypoaldosteronism, 19 were associated with prematurity and in 45 the cause was unclear. There was no adverse effect of steroid treatment on height (CAH mean HSDS=−0.01±−1.96; Adr-I=0.85±1.96) but it was associated with an increased BMI (CAH BMISDS mean=1.14±1.42, Adr-I=0.89±2.00). The distribution of genetic mutations for patients with CAH closely mirrored that found in other European studies. Hydrocortisone and fludrocortisone doses correlated with the severity of the genetic mutations (P<0.02) but BMI did not (I=0.178).
Conclusion: The patient cohort characteristics including genetic characteristics largely mirrored other European cohorts. Increased severity of CAH correlated with higher doses of hydrocortisone and fludrocortisone but had no effect on height or BMI.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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