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      Short-Term Growth in Children with Congenital Adrenal Hyperplasia

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          Abstract

          Objective: To describe short-term growth patterns in children with congenital adrenal hyperplasia (CAH). Methods: Height was measured daily in 5 children (1 boy) aged 3.9–9.7 years over 9–16 months. Kernel regression analysis was used to characterise short-term growth. The results were compared with data from 43 normal prepubertal children. Results: Growth was characterised by growth spurts with intervening periods of no discernible growth (stasis). Height gain was positively correlated with the mean amplitude of growth spurts (r = 0.9, p < 0.05). Patients with CAH spent significantly less time in stasis than normal children (5 ± 4.8 vs. 11.4 ± 7.2% of study period; p < 0.05), the mean length of growth spurts was significantly longer (110.4 ± 28.3 vs. 54.0 ± 13.1 days; p < 0.05) and the mean amplitude significantly lower (0.022 ± 0.008 vs. 0.037 ± 0.001 cm/day; p < 0.01). Conclusions: Compared with normal controls, short-term growth in children with CAH is characterised by long-duration low amplitude growth spurts with reduced periods of growth stasis. Better growth was correlated with the amplitude of growth spurts. The relatively smooth short-term growth in children with CAH suggests that if significant variations in growth rate are seen, they are more likely to be a consequence of under- or over-treatment rather than non-linear growth itself.

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          Multivariate Locally Weighted Least Squares Regression

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            Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis.

            To investigate adult heights attained by patients with 21-hydroxylase deficiency and to perform a meta-analysis of height outcomes reported in this population. A retrospective chart review of our patients >5 years of age (n = 65) who were followed up from 1978 to 1998 for 21-hydroxylase deficiency was conducted. Final height (FH) SD scores and target height (TH) SD scores were determined. The impact of sex, time of diagnosis, and compliance was assessed. Meta-analysis of results from 18 studies was performed; TH was available for 204 of 561 patients. Mean FH SD score-TH SD score for our 65 patients was -1.03. For the meta-analysis, mean weighted FH SD score for all 561 patients was -1.37, whereas weighted mean FH SD score-TH SD score for the 204 patients for whom TH was available was -1.21. No difference in outcome was seen for males compared with females, although a statistically significant difference was seen for patients identified early versus late. Adult height in patients with 21-hydroxylase deficiency is often within 1 SD of TH. Early diagnosis and good compliance appear to improve the outcome. Rather than pursuing alternate therapies for congenital adrenal hyperplasia, efforts may instead be focused on early detection and improved compliance with traditional medical therapy.
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              CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.

              In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), 30%) or compound heterozygous with any of the group A, B, or C mutations. Three patients showed unclassifiable genotypes. FH was similar in the female groups, whereas male patients in group B were shorter than males in groups A and C. Fifty-five percent of patients in group A, 33% in group B, and 40% in group C reached an FH within 0.5 SD of target height. Four of the 7 patients diagnosed via neonatal screening achieved an FH equal to or above the target height. In the entire group, early diagnosis (<1 yr) improved height outcome. Early diagnosed CAH patients who received lower cortisol equivalent doses during the first year of life reached a better FH. Our results underline the importance of mineralocorticoid therapy, as CAH subjects in groups A and B who did not receive this treatment showed reduced FH. Early diagnosis, the use of more physiological cortisol equivalent dosages during the first year of life, and the extension of mineralocorticoid therapy to all classical patients are shown to improve the auxological outcome. Genotypic analysis helped to interpret the height results of our cases and prospectively may represent a useful tool for improving the therapeutic choice and the height outcome.
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                Author and article information

                Journal
                HRE
                Horm Res Paediatr
                10.1159/issn.1663-2818
                Hormone Research in Paediatrics
                S. Karger AG
                1663-2818
                1663-2826
                2009
                February 2009
                03 February 2009
                : 71
                : 3
                : 142-147
                Affiliations
                aDepartment of Paediatrics, University of Tartu, Tartu, Estonia; bUniversity of Manchester, School of Mathematics, Manchester, and cJenny Lind Children’s Department, Norfolk and Norwich University Hospital, Norwich, UK
                Article
                197870 Horm Res 2009;71:142–147
                10.1159/000197870
                19188738
                bed4bc7c-6832-4480-bb96-bca127dbaee0
                © 2009 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                : 04 September 2007
                : 25 April 2008
                Page count
                Figures: 1, Tables: 1, References: 20, Pages: 6
                Categories
                Original Paper

                Endocrinology & Diabetes,Neurology,Nutrition & Dietetics,Sexual medicine,Internal medicine,Pharmacology & Pharmaceutical medicine
                Congenital adrenal hyperplasia,Short-term growth,Impaired height,Growth spurts

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