Adult Height in Patients with Congenital Adrenal Hyperplasia: A Systematic Review and Metaanalysis

Muthusamy, Kalpana; Elamin, Mohamed B.; Smushkin, Galina; Murad, M. Hassan; Lampropulos, Julianna F.; Elamin, Khalid B.; Elnour, Nisrin O. Abu; Gallegos‐Orozco, Juan F.; Fatourechi, Mitra M.; Agrwal, Neera; Lane, Melanie A.; Albuquerque, Felipe N.; Erwin, Patricia J.; Montori, Víctor M.

doi:10.1210/jc.2009-2616

Cited by 146 publications

(103 citation statements)

References 46 publications

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“…found mean FH (-1.37 SD) higher than previously reported (-2.0 SD), but still lower than the values found in the overall population (8). Another meta-analysis including 35 eligible studies showed that the final height of CAH patients (-1.38 SD) is lower than the population norm, and is lower than expected given parental height (9). Diagnosis up to one year of CA and good treatment compliance had a positive influence in FH (8-10); however, the reasons for this shortfall are not fully known.…”

Section: Discussionmentioning

confidence: 53%

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Cordeiro

Silva

Goulart

et al. 2013

Arq Bras Endocrinol Metab

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Objective: The purpose of this study was to identify factors that might interfere with reaching the final height in patients with 21-hydroxylase deficiency (21-OHD). Subjects and methods: Thirty-one patients with classical 21-OHD who reached their FH in our Institution were evaluated in order to compare the Z score for final height (FHZ) with: (1) the target height, (2) the standard height for the population, and (3) the hydrocortisone treatment schedule. Results: The FHZ of -2.13 ± 1.11 had a significant negative correlation with the hydrocortisone doses used throughout the period of study. Patients who reached FH within the normal population range were those who received lower doses of hydrocortisone, as compared to those whose FH remained below -2 SDS. Conclusion: We conclude that careful treatment adjustments have a major influence on growth of children with CAH, and that the dose range for hydrocortisone replacement that does not lead to side effects is relatively narrow. The better height outcome was achieved in 21-OHD patients who received lower doses of hydrocortisone. Arq Bras Endocrinol Metab. 2013;57(2):126-31 Keywords Congenital adrenal hyperplasia; steroid 21-hydroxylase; corticosteroids; hydrocortisone; body height RESUMO Objetivo: O objetivo do estudo foi a identificação de fatores que podem interferir na aquisição de altura final de pacientes com a deficiência de 21-hidroxilase (21OHD). Sujeitos e métodos: A altura final (escore Z: FHZ) de 31 pacientes com a forma clássica da 21OHD, acompanhados em nossa instituição, foi comparada com: (1) a altura alvo, (2) o padrão de referência para a população, e (3) a dose de hidrocortisona durante o acompanhamento. Resultados: Observou-se correlação negativa significativa entre o FHZ de -2,13 ± 1,11 e as doses de hidrocortisona utilizadas durante o período de estudo. Os pacientes que atingiram altura final dentro do padrão de referência para a população usaram doses mais baixas de hidrocortisona quando comparados àqueles que permaneceram abaixo de -2 DP. Conclusão: O cuidado nos ajustes das doses durante o tratamento da 21OHD tem grande influência sobre o crescimento das crianças. A faixa de variação da dose de reposição da hidrocortisona que não causa efeitos colaterais é relativamente estreita. O melhor resultado estatural foi observado nos pacientes com 21OHD tratados com doses mais baixas de hidrocortisona. Arq Bras Endocrinol Metab. 2013;57(2):126-31 Descritores

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Section: Discussionmentioning

confidence: 53%

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Cordeiro

Silva

Goulart

et al. 2013

Arq Bras Endocrinol Metab

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“…Thirdly, as well as the data of Bonfig et al, the period we observed was short, the first three years of life. Though we did not find obvious difference of heights between the patients treated with and without fludrocortisone, we should also consider the effect of fludrocortisone for height prognosis as previously reported [5]. For a precise evaluation of the therapy, a future randomized controlled study is necessary.…”

Section: Mg/mmentioning

confidence: 56%

Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life

et al. 2012

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“…Studies from Sweden also found that height in males were more negatively affected than in females (40), and a recent meta-analysis from 35 eligible studies concluded with reduced final height in both sexes but no significant association with age at diagnosis, sex, type, dose of glucocorticoids and age at onset of puberty (41). They found that mineralocorticoid users had a better height outcome in comparison with the non-users.…”

Section: Discussionmentioning

confidence: 98%

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

Nermoen

Brønstad

Fougner

et al. 2012

European Journal of Endocrinology

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Objective: The aim of this study was to determine the genetic, anthropometric and metabolic features in an unselected population of adult Norwegian patients with 21-hydroxylase deficiency (21OHD). Patients, methods and design: Sixty-four 21OHD patients participated (23 men and 41 women; median age 38.5 years; range 19-72 years) in a cross-sectional study including DNA sequencing of CYP21A2, anthropometric measurements including dual X-ray absorptiometry scanning and biochemical analyses. The results were compared with reference cohorts from the general population. Results: We identified four novel and plausibly disease-causing CYP21A2 mutations. Gene deletions/conversions (42.1% of alleles), the splice mutation I2 splice (23.0%) and point mutation I172 N (22.2%) were common. The genotype corresponded to clinical phenotype in 92% of the patients. The prevalence of osteopenia was 48% in males and 34% in females. Both men and women had normal BMI but markedly increased fat mass compared with the normal population. Diastolic blood pressure was higher than normal. Thirty-nine per cent of the women had testosterone levels above the normal range; 13% of the men had testosterone levels below normal. Reduced final height was more pronounced in men (median K11.2 cm, K1.77 SDS) than in women (K6.3 cm, K1.07 SDS). Conclusions: In this population-based survey of 21OHD, we identified four novel mutations and high concordance between genotype and phenotype. The patients had increased fat mass, increased diastolic blood pressure, reduced final height and high frequency of osteopenia among males. These results show unfavourable metabolic features in 21OHD patients indicating a need for improvement of treatment and follow-up.

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Adult Height in Patients with Congenital Adrenal Hyperplasia: A Systematic Review and Metaanalysis

Abstract: Evidence derived from observational studies suggests that the final height of CAH patients treated with glucocorticoids is lower than the population norm and is lower than expected given parental height.

Cited by 146 publications

References 46 publications

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

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