Congenital adrenal hyperplasia: an update in children
- 1 June 2011
- journal article
- review article
- Published by Ovid Technologies (Wolters Kluwer Health) in Current Opinion in Endocrinology, Diabetes and Obesity
- Vol. 18 (3), 166-170
- https://doi.org/10.1097/med.0b013e328346938c
Abstract
Purpose of review Congenital adrenal hyperplasia (CAH) in children, the majority of which is due to 21-hydroxylase deficiency, represents a group of disorders in which there is impaired cortisol synthesis and abnormalities in adrenal hormonal profiles. There continues to be debate regarding the optimal management of and treatment for these children. This review will highlight the most recent advances in neonatal screening for CAH, as well as the timeliest recommendations for the treatment and management of 21-hydroxylase deficiency, both the classic and nonclassic forms of the disorder. Recent findings Substantive advancements have been made with regard to neonatal screening for CAH, allowing for earlier diagnosis, while minimizing the morbidity and mortality associated with delayed detection. Although the achievement of normal growth and development remains the ultimate goal of treatment, recent studies have provided further insight into the management and refinement of therapy in these children. Summary The optimal management and treatment for children with CAH is still unclear. Although there have been recent advances in the diagnosis and treatment of this group of disorders, there is still much to learn in order to optimize therapy for these individuals.Keywords
This publication has 58 references indexed in Scilit:
- Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice GuidelineJournal of Clinical Endocrinology & Metabolism, 2010
- A pharmacokinetic and pharmacodynamic study of delayed‐ and extended‐release hydrocortisone (ChronocortTM) vs. conventional hydrocortisone (CortefTM) in the treatment of congenital adrenal hyperplasiaClinical Endocrinology, 2010
- Nonclassic Congenital Adrenal HyperplasiaInternational Journal of Pediatric Endocrinology, 2010
- Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase DeficiencyJournal of Clinical Endocrinology & Metabolism, 2009
- Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)Journal of Inherited Metabolic Disease, 2007
- Neonatal screening in Europe; the situation in 2004Journal of Inherited Metabolic Disease, 2007
- Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girlsThe Journal of Pediatrics, 2005
- Asymptomatic Testicular Adrenal Rest Tumours in Adolescent and Adult Males with Congenital Adrenal Hyperplasia: Basal and Follow-up Investigation After 2.6 YearsJournal of Pediatric Endocrinology and Metabolism, 2004
- Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levelsThe Journal of Pediatrics, 1997
- Bone density in young patients with congenital adrenal hyperplasiaBone, 1996