Demographic Characteristics and Clinical Findings in Patients with Congenital Adrenal Hyperplasia in Isfahan City, Iran

Document Type : Original Article (s)

Authors

1 Student of Medicine, Student Research Committee, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

2 Professor, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia, which can be obscured by ambiguous genitalia, weight loss, and premature pubarche. Therefore, this study aimed to evaluate the demographic characteristics and clinical findings of patients with congenital adrenal hyperplasia.Methods: In this cross-sectional study, 161 patients with congenital adrenal hyperplasia participated. All patients were followed up, and anthropometric findings of clinical examinations and paraclinical findings were accurately recorded in the files, and extracted from the records.Findings: 142 cases of deficiency of 21-hydroxylase deficiency (21-OHD), 10 cases of 3β-hydroxysteroid dehydrogenase (3β-HSD), 7 cases of 11-hydroxylase deficiency (11-OHD), and 2 cases of steroidogenic acute regulatory protein (StAR) were studied. 69 patients were boys and 92 were girls, with an average age of 9.39 ± 5.61 years. The prevalence of macropenia was 22.4%, as well as clitoromegaly 33.5%, ambiguous genitalia 14.3%, hirsutism 5.0%, premature facial hair loss 5.6%, and premature puberty 11.8%; and mean age of puberty was 8.89 ± 2.48 years.Conclusion: Based on the clinical findings, in children with ambiguous genitalia, macropenia, clitoromegaly, hirsutism, premature facial hair growth, and premature puberty, we should consider congenital adrenal hyperplasia.

Keywords


  1. Nimkarn S, New MI. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment. Ann N Y Acad Sci 2010; 1192: 5-11.
  2. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003; 349(8): 776-88.
  3. Knowles RL, Khalid JM, Oerton JM, Hindmarsh PC, Kelnar CJ, Dezateux C. Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance. Arch Dis Child 2014; 99(1): 30-4.
  4. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010; 95(9): 4133-60.
  5. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365(9477): 2125-36.
  6. Muthusamy K, Elamin MB, Smushkin G, Murad MH, Lampropulos JF, Elamin KB, et al. Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis. J Clin Endocrinol Metab 2010; 95(9): 4161-72.
  7. Levine LS. Congenital adrenal hyperplasia (Monographs on endocrinology). New York, NY: Springer; 2012.
  8. Fleming L, Van Riper M, Knafl K. Management of childhood congenital adrenal hyperplasia-an integrative review of the literature. J Pediatr Health Care 2017; 31(5): 560-77.
  9. Fahmy M. Congenital anomalies of the penis. New York, NY: Springer; 2017.
  10. Iezzi ML, Lasorella S, Varriale G, Zagaroli L, Ambrosi M, Verrotti A. Clitoromegaly in childhood and adolescence: Behind one clinical sign, a clinical sea. Sex Dev 2018; 12(4): 163-74.
  11. Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child 2004; 89(5): 401-7.
  12. Ibanez L, Virdis R, Potau N, Zampolli M, Ghizzoni L, Albisu MA, et al. Natural history of premature pubarche: an auxological study. J Clin Endocrinol Metab 1992; 74(2): 254-7.
  13. Sultan C, Gaspari L, Kalfa N, Paris F. Premature pubarche. In: Sultan C, Genazzani AR, editors. Frontiers in Gynecological Endocrinology. New York, NY: Springer; 2017. p. 49-55.
  14. Rosenfield R, Barnes R, Ehrmann D. Hyperandrogenism, hirsutism, and the polycystic ovary syndrome. In: Jameson JL, De Groot LJ, editors. Endocrinology: Adult and pediatric. 7th ed. Philadelphia, PA: Elsevier; 2015. p. 2275-96.
  15. Carel JC, Leger J. Clinical practice. Precocious puberty. N Engl J Med 2008; 358(22): 2366-77.
  16. Ueshiba H, Zerah M, New MI. Enzyme-linked immunosorbent assay (ELISA) method for screening of non-classical steroid 21-hydroxylase deficiency. Horm Metab Res 1994; 26(1): 43-5.
  17. Leng SX, Cappola AR, Andersen RE, Blackman MR, Koenig K, Blair M, et al. Serum levels of insulin-like growth factor-I (IGF-I) and dehydroepiandrosterone sulfate (DHEA-S), and their relationships with serum interleukin-6, in the geriatric syndrome of frailty. Aging Clin Exp Res 2004; 16(2): 153-7.
  18. Isidori AM, Giannetta E, Gianfrilli D, Greco EA, Bonifacio V, Aversa A, et al. Effects of testosterone on sexual function in men: results of a meta-analysis. Clin Endocrinol (Oxf ) 2005; 63(4): 381-94.
  19. Kandemir N, Yordam N. Congenital adrenal hyperplasia in Turkey: A review of 273 patients. Acta Paediatr 1997; 86(1): 22-5.
  20. Zain MM, Ahmad Z, Hambali Z, Osman M, Zain MM, Zain FM, et al. Clinical Presentation of Congenital Adrenal Hyperplasia in Selected Multiethnic Paediatric Population. Malaysian Journal of Medicine and Health Sciences 2015; 11(1): 77-83.
  21. Nimkarn S, New MI, Lin-Su K. Growth and Pubertal Characteristics in Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. J Pediatr Endocrinol Metab 2007; 20(8): 883-92.
  22. Knowles R, Khalid JM, Oerton J, Hindmarsh P, Kelnar C, Dezateux C. Clinical presentation of older children with congenital adrenal hyperplasia: an important outcome for newborn screening policy. Arch Dis Child 2010; 95((Suppl 1)): A6-A7.
  23. Osifo OD, Amusan TI. Female children with ambiguous genitalia in awareness-poor subregion. Afr J Reprod Health 2009; 13(4): 129-36.
  24. Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van RC, Hill SC, et al. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2012; 97(12): 4429-38.
  25. Sturm RM, Durbin-Johnson B, Kurzrock EA. Congenital adrenal hyperplasia: current surgical management at academic medical centers in the United States. J Urol 2015; 193(5 Suppl): 1796-801.
  26. Yankovic F, Cherian A, Steven L, Mathur A, Cuckow P. Current practice in feminizing surgery for congenital adrenal hyperplasia; a specialist survey. J Pediatr Urol 2013; 9(6 Pt B): 1103-7.
  27. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21(3): 245-91.
  28. Merke DP. Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2008; 93(3): 653-60.
  29. Maccabee-Ryaboy N, Thomas W, Kyllo J, Lteif A, Petryk A, Gonzalez-Bolanos MT, et al. Hypertension in children with congenital adrenal hyperplasia. Clin Endocrinol (Oxf ) 2016; 85(4): 528-34.