850 Management of congenital adrenal hyperplasia in a paediatric endocrinology center over the past 20 years

Abstract

<h3>Background</h3> Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in adrenal cortical steroidogenesis. It is the commonest cause of genital ambiguity in newborn and primary adrenal insufficiency during childhood. The most common form of CAH is owing to steroid 21-Hydroxylase deficiency (21-OHD). Affected individuals have to receive lifelong corticosteroid replacement. It can be fatal if left untreated. Patients often suffer from the long-term complications resulting from either overtreatment or undertreatment. There are many different daily schedules of steroid replacement therapies and formulations, yet there is no unified approach in clinical practice with regard to the clinical management of CAH, with temporal and geographical variation despite existent international guidelines. <h3>Objectives</h3> To describe the clinical characteristics and medical management of a local cohort of classic CAH patients To examine the delivery of corticosteroid replacement in the treatment of children and adolescents with classic CAH due to 21-OHD <h3>Methods</h3> <b>Design and setting</b> Retrospective chart review of 23 patients with classic CAH due to 21-OHD who were longitudinally followed up in a local paediatric endocrinology center over the past 20 years. <b>Main outcome measures</b> Outcome variables of interest include demographics, clinical characterization of CAH subtypes (salt-wasting SW and simple virilizing SV), laboratory investigations at diagnosis and on monitoring, genetic testing (karyotyping and genotyping), treatment including type of glucocorticoid replacement, glucocorticoid daily schedules and dose levels, CAH-associated complications and details of genital surgery undertaken. <h3>Results</h3> Among our 23 patients with classic CAH, 12 were females (52.2%). All except one patient were Chinese (95.7%). 11 were salt wasting (SW) subtype (47.8%) and 12 were simple virilizing (SV). There were 8 patients with SW CAH were male (72.7%) and 9 patients with SV CAH were female (75%). The mean age of diagnosis in SW CAH (0.66 month) was younger than in SV CAH (3.14 years). Their initial presentations are presented in figure 1. The most popular glucocorticoid remained Hydrocortisone but recently more patients were put on Prednisolone. There showed a gentle decline in the mean total daily hydrocortisone (or equivalent) dose throughout the years. Glucocorticoid was prescribed from 2–3 times a day to more often 4 times a day recently (if not on Prednisolone) (figure 2). Five patients (3 boys and 2 girls) were diagnosed central precocious puberty confirmed by LHRH stimulation test. Four had SV CAH whereas one had SW CAH. All were treated with GnRH analogue to control their premature pubertal development. Other complications are listed in figure 3. 7 girls (58%) received corrective genital surgery. All operations were performed by one stage. All except one had surgery undertaken at or before her second birthday (median age of operation 21 months). <h3>Conclusions</h3> We highlighted the trend of more frequent and lower total daily dose of hydrocortisone (or equivalent) replacement, with the goal to achieve a normal rate of growth and puberty development and attenuate the CAH-associated complications.