Keywords
Abstract
Introduction
Congenital adrenal hyperplasia (CAH) attributed to 21-OHD is one of the most common genetic endocrine disorders that occurs due to the disruption and defects in the steroidogenic enzymes involved in the production of cortisol. The current study aims to assess the final height of patients with classic CAH forms in Iran.
Methods
The retrospective cohort study was conducted on 30 patients with classic type CAH who were followed up and treated in the endocrinology clinic of Ali Asghar Hospital during the 2000-2022 years. The history of the patients at the time of diagnosis was extracted from the patient's files and recorded in the checklist. All data was analyzed using IBM SPSS Statistics version 22 software.
Results
In the SV group, the target and final height for females was 162 and 159.2 cm, and for males was 173 and 171 cm. In the SW group, the target and final height for females was 164 and 163.2 cm, and for males was 171.7 and 173.1 cm. There was a significant and reverse correlation between the mean age at the time of diagnosis and the Final Height percentile among all cases (r: -0.55, p: 0.02) and the SW group (r: -0.75, p: 0.002). A positive and significant correlation was seen between the bone age advanced and final height percentile in the SV group (r: 0.04, p: 0.03). The final height percentile increased significantly with an increase in the Duration of treatment regardless of CAH type (r: -0.67, p: 0.009). Also, there was a positive and significant correlation between hydrocortisone dose and final height percentile in the SV group (r: 0.24, p: 0.04).
Conclusion
The results of the present study showed that early diagnosis of the disease at a young age, lower bone age of patients, preventing the increase of obesity in children with CAH, and receiving appropriate drugs with standard doses can play an effective role in increasing the final height of CAH patients.
References
Bongiovanni AM. The adrenogenital syndrome. Annals of Internal Medicine. 1963;58(4):722-.
Falhammar H, Nordenström A. Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome. Endocrine. 2015;50:32-50.
White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine reviews. 2000;21(3):245-91.
Gidlöf S, Falhammar H, Thilén A, von Döbeln U, Ritzén M, Wedell A, et al. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. The lancet Diabetes & endocrinology. 2013;1(1):35-42.
Nguyen LS, Prifti E, Ichou F, Leban M, Funck-Brentano C, Touraine P, et al. Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: A machine-learning-based analysis. Scientific Reports. 2020;10(1):8859.
El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. The Lancet. 2017;390(10108):2194-210.
Mercè Fernández‐Balsells M, Muthusamy K, Smushkin G, Lampropulos JF, Elamin MB, Abu Elnour NO, et al. Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21‐hydroxylase (CYP21A2) deficiency: a systematic review and meta‐analyses. Clinical Endocrinology. 2010;73(4):436-44.
Bunraungsak S, Klomchan T, Sahakitrungruang T. Growth pattern and pubertal development in patients with classic 21-hydroxylase deficiency. Asian Biomedicine. 2013;7(6):787-94.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, et al. Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management. Endocrine reviews. 2022;43(1):91-159.
Hauffa BP, Winter A, Stolecke H. Treatment and disease effects on short-term growth and adult height in children and adolescents with 21-hydroxylase deficiency. Klinische Pädiatrie. 1997;209(02):71-7.
Klingensmith GJ, Garcia SC, Jones Jr HW, Migeon CJ, Blizzard RM. Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation, and fertility. The Journal of pediatrics. 1977;90(6):996-1004.
Lim Y, Batch J, Warne G. Adrenal 21‐hydroxylase deficiency in childhood: 25 years' experience. Journal of paediatrics and child health. 1995;31(3):222-7.
Idkowiak J, Parajes CS, Shenoy S, Dhir V, Taylor A, Patel P, et al., editors. Broad phenotypic spectrum of 17 [alpha]-hydroxylase deficiency: Functional characterisation of 4 novel mutations in the CYP17A1 gene. Endocrine Abstracts; 2012: Bioscientifica.
Razzaghy-Azar M, Zangeneh F, Nourbakhash M. A review of 433 patients with congenital adrenal hyperplasia. Iranian Journal of Endocrinology and Metabolism. 2002;4(3):185-94.
Miller WL, Levine LS. Molecular and clinical advances in congenital adrenal hyperplasia. The Journal of pediatrics. 1987;111(1):1-17.
Kobayashi A, Fujiu K. Congenital Adrenal Hyperplasia A Critical Examination of Secondary Hypertension Diagnosis. International Heart Journal. 2024;65(1):1-3.
Tsai M-JM, Tsai W-Y, Lee C-T, Liu S-Y, Chien Y-H, Tung Y-C. Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of the Formosan Medical Association. 2023;122(2):106-12.
Balagamage C, Arshad A, Elhassan YS, Ben Said W, Krone RE, Gleeson H, et al. Management aspects of congenital adrenal hyperplasia during adolescence and transition to adult care. Clinical Endocrinology. 2023.
KURTİPEK B, KESKİN M, BAYRAMOGLU E, AYCAN Z. Evaluation of final heights in patients with congenital adrenal hyperplasia. Pamukkale Medical Journal.17(2):8-.
Flokas ME, Wakim P, Kollender S, Sinaii N, Merke DP. Gonadotropin-releasing hormone agonist therapy and longitudinal bone mineral density in congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism. 2024;109(2):498-504.
Eugster EA, DiMeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH. Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis. The Journal of pediatrics. 2001;138(1):26-32.
Muthusamy K, Elamin MB, Smushkin G, Murad MH, Lampropulos JF, Elamin KB, et al. Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis. The Journal of Clinical Endocrinology & Metabolism. 2010;95(9):4161-72.
Jääskeläinen J, Voutilainen R. Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height. Pediatric research. 1997;41(1):30-3.
Bonfig W, Bechtold S, Schmidt H, Knorr D, Schwarz HP. Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty. The Journal of Clinical Endocrinology & Metabolism. 2007;92(5):1635-9.
Hargitai G, Sólyom J, Battelino T, Lebl J, Pribilincová Z, Hauspie R, et al. Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency results of a multicenter study. Hormone research. 2001;55(4):161-71.
Tsai MM, Tsai WY, Lee CT, Liu SY, Chien YH, Tung YC. Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Formos Med Assoc. 2023;122(2):106-12.
Lin-Su K, Vogiatzi MG, Marshall I, Harbison MD, Macapagal MC, Betensky B, et al. Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism. 2005;90(6):3318-25.
New MI. Factors determining final height in congenital adrenal hyperplasia. Journal of Pediatric Endocrinology and Metabolism. 2001;14(s2):933-8.
Merke DP, Cutler GB. New ideas for medical treatment of congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics. 2001;30(1):121-35.
Lin-Su K, Harbison MD, Lekarev O, Vogiatzi MG, New MI. Final adult height in children with congenital adrenal hyperplasia treated with growth hormone. The Journal of Clinical Endocrinology & Metabolism. 2011;96(6):1710-7.
Han T, Conway G, Willis D, Krone N, Rees DA, Stimson R, et al. Relationship between final height and health outcomes in adults with congenital adrenal hyperplasia: United Kingdom congenital adrenal hyperplasia adult study executive (CaHASE). The Journal of Clinical Endocrinology & Metabolism. 2014;99(8):E1547-E55.
Manoli I, Kanaka‐Gantenbein C, Voutetakis A, Maniati‐Christidi M, Dacou‐Voutetakis C. Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome. Clinical endocrinology. 2002;57(5):669-76.
Balsamo A, Cicognani A, Baldazzi L, Barbaro M, Baronio F, Gennari M, et al. CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency. The Journal of Clinical Endocrinology & Metabolism. 2003;88(12):5680-8.
Sarafoglou K, Forlenza GP, Yaw Addo O, Kyllo J, Lteif A, Hindmarsh PC, et al. Obesity in children with congenital adrenal hyperplasia in the Minnesota cohort: importance of adjusting body mass index for height-age. Clin Endocrinol (Oxf). 2017;86(5):708-16.
Wasniewska MG, Morabito LA, Baronio F, Einaudi S, Salerno M, Bizzarri C, et al. Growth trajectory and adult height in children with nonclassical congenital adrenal hyperplasia. Hormone research in paediatrics. 2020;93(3):173-81.
Brook C, Zachmann M, Prader A, Mürset G. Experience with long-term therapy in congenital adrenal hyperplasia. The Journal of Pediatrics. 1974;85(1):12-9.
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams textbook of endocrinology E-Book: Elsevier Health Sciences; 2015.