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

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          Abstract

          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.

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          Most cited references15

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          How sexually dimorphic are we? Review and synthesis.

          The belief that Homo sapiens is absolutely dimorphic with the respect to sex chromosome composition, gonadal structure, hormone levels, and the structure of the internal genital duct systems and external genitalia, derives from the platonic ideal that for each sex there is a single, universally correct developmental pathway and outcome. We surveyed the medical literature from 1955 to the present for studies of the frequency of deviation from the ideal male or female. We conclude that this frequency may be as high as 2% of live births. The frequency of individuals receiving "corrective" genital surgery, however, probably runs between 1 and 2 per 1,000 live births (0.1-0.2%). Am. J. Hum. Biol. 12:151-166, 2000. Copyright 2000 Wiley-Liss, Inc.
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            How common is intersex? a response to Anne Fausto-Sterling.

            Anne Fausto-Sterling s suggestion that the prevalence of intersex might be as high as 1.7% has attracted wide attention in both the scholarly press and the popular media. Many reviewers are not aware that this figure includes conditions which most clinicians do not recognize as intersex, such as Klinefelter syndrome, Turner syndrome, and late-onset adrenal hyperplasia. If the term intersex is to retain any meaning, the term should be restricted to those conditions in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female. Applying this more precise definition, the true prevalence of intersex is seen to be about 0.018%, almost 100 times lower than Fausto-Sterling s estimate of 1.7%.
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              Epidemiology and Initial Management of Ambiguous Genitalia at Birth in Germany

              Background: In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies. Methods: We used the registry for rare diseases in pediatrics in Germany to ascertain cases and asked reporting institutions for information on phenotype, laboratory tests, imaging results, diagnosis, initial management and sex assignment. Results: We identified 80 cases within a 2-year study period and calculated an incidence of 2 per 10,000 births with ambiguous genitalia per year in Germany. Prevalence was higher in infants from non-German family background. In more than 50% of all infants a definite diagnosis was lacking even at the age of 6 months. In those cases where the etiology was confirmed, the most common diagnosis was congenital adrenal hyperplasia, followed by androgen insensitivity syndrome and mixed gonadal dysgenesis. Associated malformations were very common, affecting 37.5% of all infants. Sex assignment was female in 46,XY infants with predominately female phenotype and all 46,XX infants. Early surgery was performed in many cases irrespective whether a definite diagnosis had been established or not. Integrated psychosocial care was the exception rather than the rule. Conclusions: Classification and management of ambiguous genitalia at birth remain a challenge for all professionals involved. National and international registries may help to provide a better understanding of the incidence and clinical course of such disorders.
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                Author and article information

                Journal
                Adv Biomed Res
                Adv Biomed Res
                ABR
                Advanced Biomedical Research
                Medknow Publications & Media Pvt Ltd (India )
                2277-9175
                2014
                22 January 2014
                : 3
                : 36
                Affiliations
                [1]Department of Neonatology, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
                [1 ]Professor of Pediatrics, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
                [2 ]Bureau of Population, Family, and School Health, Ministry of Health and Medical Education, Tehran, Iran
                [3 ]Department of School Health, Bureau of Health and Fitness, Ministry of Education, Tehran, Iran
                [4 ]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
                Author notes
                Address for correspondence: Dr. Mohammad -Esmaeil Motlagh, 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. E-mail: mohammad-motlagh1389@ 123456yahoo.com
                Article
                ABR-3-36
                10.4103/2277-9175.125648
                3949344
                dd87922c-dd13-4ddd-b025-ff468c25e499
                Copyright: © 2014 Armanian.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                : 22 March 2013
                : 25 August 2013
                Categories
                Original Article

                Molecular medicine
                ambiguous genitalia,screening examinations,undescended testes
                Molecular medicine
                ambiguous genitalia, screening examinations, undescended testes

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