1887
Volume 2015, Issue 1
  • ISSN: 0253-8253
  • E-ISSN: 2227-0426

Abstract

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. 21-hydroxylase deficiency is responsible for the majority of cases (90-95%) and considered the most common cause of genital ambiguity. There are no statistics concerning the prevalence of this disorder in Syria, although the high rate of consanguineous marriages indicates a possible high prevalence. This study aims to collect baseline information about CAH in Syria to evaluate the potential need of a screening program. All medical records of inpatients who had CAH as a final or presumptive diagnosis at the Children's Hospital of Damascus between 2008–2012, or were diagnosed elsewhere and then admitted at the hospital for the first time within the same period, were retrospectively reviewed and divided into two groups: confirmed and suspected cases. Eighty-nine cases were confirmed, 25 were still suspected. Of the 89 confirmed cases: 20 (22.5%) were males, 66 (74.1%) were females, and 3 were ambiguous. Sixty-one patients (68.5%) were of the salt wasting type and 28 (31.5%) were of the simple virilizing type. The mortality rate was 6.7%. Thirty-two females were assigned as males at birth. Seventeen cases (19.1%) underwent previous hospitalization. 69.7% of patients were not diagnosed during the first month of life. Of the 25 suspected cases: 12 were males, 8 were females and 5 were ambiguous. Confirmatory tests had not been performed because of death in 7 patients (28%) and early discharge upon parental request in another 7 patients (28%). A mandatory screening program for CAH in Syria seems necessary due to the obvious lack of awareness, delayed diagnosis and high expected prevalence. However, further efforts are needed to confirm the effectiveness of such a program in the Syrian society.

Loading

Article metrics loading...

/content/journals/10.5339/qmj.2015.11
2015-07-31
2019-11-15
Loading full text...

Full text loading...

/deliver/fulltext/qmj/2015/1/qmj.2015.11.html?itemId=/content/journals/10.5339/qmj.2015.11&mimeType=html&fmt=ahah

References

  1. Hayashi G, Faure C, Brondi MF, Vallejos C, Soares D, Oliveira É, Brito VN, Mendonca BB, Bachega TA. Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia. Arq Bras Endocrinol Metabol. 2011; 55:8:632637.
    [Google Scholar]
  2. Dessinioti C, Katsambas A. Congenital adrenal hyperplasia. Dermatoendocrinol. 2009; 1:April:8791.
    [Google Scholar]
  3. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000; 21:3:245291.
    [Google Scholar]
  4. Haque S. Ambiguous genitalia. In: Salam MA, ed. Principles and practice of urology. 2nd ed. New Delhi: Jaypee Brothers Medical Publishers 2013;:375380.
    [Google Scholar]
  5. Nordenström A, Wedell A, Hagenfeldt L, Marcus C, Larsson A. Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics. 2001; 108::E68.
    [Google Scholar]
  6. Witchel SF, Azziz R. Congenital Adrenal Hyperplasia. North Am Soc Pediatr Adolesc Gynecol. 2011; 24:3:116126.
    [Google Scholar]
  7. Kandemir N, Yordam N. Congenital adrenal hyperplasia in Turkey: a review of 273 patients. Acta Paediatr. 1997; 86::2225.
    [Google Scholar]
  8. Mahdieh N, Rabbani B. 21-Hydroxylase Deficiency: Newborn Screening in Iran? Iran J Pediatr. 2012; 22:3:279280.
    [Google Scholar]
  9. Heather NL, Seneviratne SN, Webster D, Derraik JGB, Jefferies C, Carll J. Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994–2013. J Clin Endocrinol Metab. 2015; 100:3:10021008.
    [Google Scholar]
  10. Gidlöf S, Falhammar H, Thilén A, von Döbeln U, Ritzén M, Wedell A, Nordenström A. One hundred years of congenital adrenal hyperplasia in Sweden: A retrospective, population-based cohort study. Lancet Diabetes Endocrinol. 2013; 1::3542.
    [Google Scholar]
  11. Al-Jurayyan NA, Al-Herbish AS, Abo Bakr AM, Al-Rabeeah AA, Al-Samarrai AI, Jawad AJ, Patel PJ, Abdullah MA. Congenital adrenal hyperplasia in a referral hospital in Saudi Arabia: Epidemiology, pattern and clinical presentation. Ann Saudi Med. 1995; 15:5:447450.
    [Google Scholar]
  12. Tayel SM, Ismael H, Kandil H, Abdrabuh AR, Sallam H. Congenital adrenal hyperplasia in Alexandria, Egypt: A high prevalence justifying the need for a community-based newborn screening program. J Trop Pediatr. 2011; 57:3:232234.
    [Google Scholar]
  13. Padidela R, Hindmarsh PC. Mineralocorticoid deficiency and treatment in congenital adrenal hyperplasia. Int J Pediatr Endocrinol. 2010; 2010::656925.
    [Google Scholar]
  14. Kuribayashi I, Nomoto S, Massa G, Oostdijk W, Wit JM, Wolffenbuttel BHR, Shizuta Y, Honke K. Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele. Horm Res Paediatr. 2005; 63:6:284293.
    [Google Scholar]
  15. Somboonnithiphol K, Panamonta O, Kiatchoosakun P, Jirapradittha J. Newborn screening for congenital adrenal hyperplasia in Srinagarind Hospital, Khon Kaen University. Asian Biomed. 2011; 5:6:855859.
    [Google Scholar]
  16. Al Hosani H, Salah M, Osman HM, Farag HM, El-Assiouty L, Saade D, Hertecant J. Expanding the comprehensive national neonatal screening programme in the United arab emirates from 1995 to 2011. East Mediterr Heal J. 2014; 20:1:1723.
    [Google Scholar]
  17. World Population Prospects: The 2012 Revision [Internet]. United Nations. 2012 [cited 2015 May 1]. Available from: http://esa.un.org/unpd/wpp/unpp/panel_indicators.htm .
  18. Huynh T, Mcgown I, Cowley D, Nyunt O, Leong GM, Harris M, Cotterill AM. The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev. 2009; 30::7586.
    [Google Scholar]
  19. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC, Endocrine Society . Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010; 95::41334160.
    [Google Scholar]
  20. Wu JY, Sudeep , Cowley DM, Harris M, McGown IN, Cotterill AM. Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia? Med J Aust. 2011; 195:5:260262.
    [Google Scholar]
  21. Othman H, Saadat M. Prevalence of consanguineous marriages in Syria. J Biosoc Sci. 2009; 41:5:685692.
    [Google Scholar]
  22. Lim YJ, Batch JA, Warne LG. Adrenal 21 -hydroxylase deficiency in childhood: 25 years' experience. J Paediatr Child Heal. 1995; 31::222227.
    [Google Scholar]
  23. Maiti A, Chatterjee S. Congenital adrenal hyperplasia: An Indian experience. J Paediatr Child Health. 2011; 47::883887.
    [Google Scholar]
  24. Azar MR, Nourbakhsh M, Nourbakhsh M. Congenital Adrenal Hyperplasia: Experience in Iranian Patients. J Compr Pediatr. 2012; 3:1:5461.
    [Google Scholar]
  25. Lubani MM, Issa ARA, Bushnaq R, AI-Saleh QA, Dudin KI, Reavey PC, el-Khalifa MY, Manandhar DS, Abdul Al YK, Ismail EA, et al., Prevalence of congenital adrenal hyperplasia in Kuwait. Eur J Pediatr. 1990; 149::391392.
    [Google Scholar]
http://instance.metastore.ingenta.com/content/journals/10.5339/qmj.2015.11
Loading
/content/journals/10.5339/qmj.2015.11
Loading

Data & Media loading...

This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error