Original Articles
Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: A meta-analysis,☆☆

https://doi.org/10.1067/mpd.2001.110527Get rights and content

Abstract

Objective: To investigate adult heights attained by patients with 21-hydroxylase deficiency and to perform a meta-analysis of height outcomes reported in this population. Study design: 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. Results: 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. Conclusions: 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. (J Pediatr 2001;138:26-32)

Section snippets

Retrospective Review

After institutional review board approval was obtained, charts from patients with 21-hydroxylase deficiency aged 5 years or older who were followed up at the James Whitcomb Riley Hospital for Children from 1978 to 1998 were reviewed. Age at diagnosis, target heights based on calculation of mid-parental heights, and FHs were examined. Because newborn screening for CAH has not yet been implemented in our state, all patients were identified by clinical presentation. Patients in whom the diagnosis

Retrospective Review

Charts from 65 patients (29 males and 36 females) with 21-hydroxylase deficiency were examined. Of these, 23 had completed linear growth and 42 were still growing. The time of diagnosis was “early” in 43 patients, and “late” in 22. Compliance was judged to be “good” in 28 patients. Typical follow-up consisted of pediatric endocrine clinic visits at 3- to 6-month intervals. Adjustments in glucocorticoid and mineralocorticoid doses were made on the basis of both auxological and biochemical

Discussion

CAH refers to a group of autosomal recessive disorders caused by deficiency of an enzyme involved in cortisol biosynthesis. The most commonly affected enzyme is 21-hydroxylase. Achievement of optimal growth in children with CAH is a well-recognized challenge in the treatment of this disorder because of an inability to adequately suppress corticotropin stimulation without simultaneously incurring the deleterious effects on growth of glucocorticoid overtreatment.8 The belief that adult height in

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    †Deceased.

    ☆☆

    Reprint requests: Erica A. Eugster, MD, Clinical Assistant Professor of Pediatrics, Pediatric Endocrinology/Diabetology, Riley Hospital No. 5984, 702 Barnhill Dr, Indianapolis, IN 46202.

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