Prevalence of genitalia malformation in Iranian children: findings of a nationwide screening survey at school entry


1 Department of Neonatology, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

2 Professor of Pediatrics, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

3 Bureau of Population, Family, and School Health, Ministry of Health and Medical Education, Tehran, Iran

4 Department of School Health, Bureau of Health and Fitness, Ministry of Education, Tehran, Iran

5 Department of Pediatrics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran and Bureau of Population, Family, and School Health, Ministry of Health and Medical Education, Tehran, Iran


Background: Ambiguous genitalia is a hereditary disorder that usually requires early attention and detection. The discovery of ambiguous genitalia in a neonate is situation that could be difficult to manage, not only because of complications such as salt-losing, but also due to the importance of sex determination before psychological gender could be established. Awareness of the prevalence of ambiguous genitalia can affect the attitude and consideration of physicians and related medical personnel about disease in different communities. So in this study, the prevalence of ambiguous genitalia and undescended testes (UDT) in Iran was reported.
Materials and Methods: This national study was conducted in 2009-2010 as part of the routine screening examinations at school entry in Iran. The physical examinations were performed for students at entry to three school levels by physicians and medical personnel. Execution and conduction of this program was the duty of the University of Medical Sciences in each province.
Results: On average, the prevalence of ambiguous genitalia was 0.04% at national level (0.03%, 0.05%, and 0.03% at 6, 12, and 15 year olds, respectively). The prevalence of ambiguous genitalia was not significantly different according to age group and living area. The average of UDT) prevalence in the whole country was 0.13%. The prevalence of UDT was higher at elementary school level than in the other two levels.
Conclusion: Although the prevalence of genitalia abnormalities was not high in the school students in Iran, given the importance of the issue and in order to find the ambiguous genitalia or UDT, medical examinations and parental notification should be taken seriously at an earlier age.


1. Kim KS, Kim J. Disorders of sex development. Korean J Urol 2012;53:1-8.  Back to cited text no. 1
2. Hughes, IA. "Ambiguous genitalia." Clinical Pediatric Endocrinology, Fifth Edition (2005): 171-182.  Back to cited text no. 2
3. Al-Mulhim AN, Kamal HM. Ambiguous genitalia in neonates: A 4-year prospective study in a localized area. East Mediterr Health J 2010;16:214-7.  Back to cited text no. 3
4. Tapia Ceballos L, López Siguero JP, del Río Camacho G, Audí Parera L, Martín Torrecillas A, Martínez Aedo MJ. Male pseudohermaphroditism. An Pediatr (Barc) 2007;67:57-60.  Back to cited text no. 4
5. Sultan C, Paris F, Jeandel C, Lumbroso S, Galifer RB. Ambiguous genitalia in the newborn. Semin Reprod Med 2002;20:181-8.  Back to cited text no. 5
6. Houk, C. P., and L. Levitsky. "Evaluation of the infant with ambiguous genitalia." Uptodate [consultado el 25/06/2011]. Disponible en www. (2010).  Back to cited text no. 6
7. Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol 2000;12:151-66.  Back to cited text no. 7
8. Sax L. How common is intersex? A response to Anne Fausto-Sterling. J Sex Res 2002;39:174-8.  Back to cited text no. 8
9. Thyen U, Lanz K, Holterhus PM, Hiort O. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res 2006;66:195-203.  Back to cited text no. 9
10. Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT. Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Pract Res Clin Endocrinol Metab 2007;21:351-65.  Back to cited text no. 10
11. Karbasi SA, Golestan M, Fallah R, Mirnaseri F, Barkhordari K, Sadr Bafghee Mahdokht. Prevalence of congenital malformations in Yazd (Iran). Acta Medica Iranica 2009;47:149-53.  Back to cited text no. 11
12. Hack WW, Sijstermans K, van Dijk J, van der Voort-Doedens LM, de Kok ME, Hobbelt-Stoker MJ. Prevalence of acquired undescended testis in 6 year, 9 year and 13 year old Dutch schoolboys. Arch Dis Child 2007;92:17-20.  Back to cited text no. 12
13. Sijstermans K, Hack WW, Meijer RW, van der Voort-Doedens LM. The frequency of undescended testis from birth to adulthood: A review. Int J Androl 2008;31:1-11.  Back to cited text no. 13
14. Yegane RA, Kheirollahi AR, Bashashati M, Rezaei N, Tarrahi MJ, Khoshdel JA. The prevalence of penoscrotal abnormalities and inguinal hernia in elementary-school boys in the west of Iran. Int J Urol 2005;12:479-83.  Back to cited text no. 14
15. Ozoemena OF, Mbah AU. The prevalence pattern of external male genital defects among secondary school students in Enugu state of Nigeria. Niger J Clin Pract 2007;10:120-5.  Back to cited text no. 15