The prevalence of penoscrotal abnormalities and inguinal hernia in elementary‐school boys in the west of Iran

Yegane, Rooh-Allah; Kheirollahi, Abdolreza; Bashashati, Mohammad; Rezaei, Nima; Tarrahi, Mohammadali; Khoshdel, Jamal-Aldin

doi:10.1111/j.1442-2042.2005.01071.x

Cited by 12 publications

(16 citation statements)

References 18 publications

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“…We also found a significantly increased prevalence of inguinal hernias (43%), and hydroceles (36%) in affected men when compared with unaffected male relatives (0%), and a statistically significant greater prevalence of hernias in affected men with TCF8 mutations (100%) compared with affected men without TCF8 mutations (20%). As the estimated prevalence of inguinal hernias in male newborns and boys is estimated to be between 1% and 2.4% [Choi et al, 1989; Yucesan et al, 1993; Kapur et al, 1998; Chandrakala and Vijayashankara, 2005; Yegane et al, 2005] the prevalence rates observed in men affected with PPCD, both with and without TCF8 mutations, are significantly increased.…”

Section: Discussionmentioning

confidence: 99%

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia

Aldave

Yellore

et al. 2007

American J of Med Genetics Pt A

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Mutations in the two-handed zinc-finger homeodomain transcription factor gene (TCF8) have been associated with posterior polymorphous corneal dystrophy (PPCD) and extraocular developmental abnormalities. We performed screening of TCF8 in 32 affected, unrelated probands, affected and unaffected family members of probands identified with a TCF8 mutation, and in 100 control individuals. Eight different pathogenic mutations were identified in eight probands: four frameshift (c.953_954insA, c.1506dupA, c.1592delA, and c.3012_3013delAG); three nonsense (Gln12X, Gln214X, Arg325X); and one missense (Met1Arg). Screening of TCF8 in affected and unaffected family members in six families demonstrated that each identified mutation segregated with the disease phenotype in each family; two probands did not have additional family members available for analysis. None of the eight TCF8 mutations was identified in 200 control chromosomes. The prevalence of hernias of the abdominal region in affected individuals with PPCD associated with TCF8 mutations was significantly higher than the prevalence in both individuals with PPCD not associated with a TCF8 mutation and in unaffected individuals. Therefore, PPCD is associated with TCF8 mutations in one quarter of affected families in this study, or about one third of all PPCD families that have been screened thus far. In these families, the presence of apparently causative TCF8 mutations is associated with abdominal and inguinal hernias.

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Section: Discussionmentioning

confidence: 99%

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia

Aldave

Yellore

et al. 2007

American J of Med Genetics Pt A

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“…The interesting thing was that 60.1% of the parents were not conscious of their male children's abnormalities. [14]…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2014

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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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“…Hidrosel için elde edilen sonuçlar Akay ve ark., [14] Şahin ve ark., [18] Remzi ve ark. [23] çalışmalarında sırasıyla %0.4, %1.2 %0.7 ve %0.9 olarak tespit edilmiştir. [23] çalışmalarında sırasıyla %0.4, %1.2 %0.7 ve %0.9 olarak tespit edilmiştir.…”

Section: Discussionunclassified

Frequency and awareness of inguinal and genital organ anomalies among men in military age

Söylemez¹,

Atar²,

Bozkurt³

et al. 2011

Turkish Journal of Urology

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ÖzetAmaç: Eksternal genital anomalilerin erken tanı ve tedavisi gelecekteki fertilite potansiyelinin korunması açısından önemlidir. Bu kesitsel çalışmada genç Türk erkeklerinde inguinal ve genital anomali sıklığının, tedavi oranlarının ve bu konudaki toplum bilincinin belirlenmesi amaçlanmıştır.Gereç ve yöntem: İzmir'de askerliğini yapmakta olan 2,061 genç erkek çalışmaya alındı. Bütün askerler aynı ürolog tarafından özel bir odada muayene edildi ve inguinal ve genital anomalileri kaydedildi. Anomali tespit edilenlere aldıkları tedaviler, tedavi zamanları, tedavi sonuçları ve hastalıkları hakkındaki bilgileri soruldu. Bulgular: Katılımcıların yaş ortalaması 20.3±1.0 (dağılım 19-27) idi. Toplam 681 kişide (%33.0) 746 anomali tespit edildi. Sıklık sırasına göre tespit edilen anomaliler; varikosel (%24.2), mea darlığı (%4.0), penil kurvatur (%2.0), inguinal herni (%1.8), inmemiş testis (%1.8), hipospadias (%0.9), hidrosel (%0.7), atrofik testis (%0.4) ve retraktil testis (%0.4) idi. Katılımcılardan 18'i (%0.9) sünnet olmamıştı. Anomalili hastalardan sadece 35'i (%4.7) opere olmuştu. Yapılan ameliyatlar; varikoselektomi, orşiopeksi, orşektomi, inguinal herni onarımı ve hipospadias onarımı idi. Sonuç: İnguinal ve genital sistem anomalileri genç Türk erkeklerinde yaygın olarak görülmektedir. Buna karşın ülkemizde bu konudaki toplum bilinci yeterli değildir ve bu anomaliler zamanında tedavi edilmemektedir. AbstractObjective: Early diagnosis and treatment of external genital abnormalities is important for protecting fertility potential in the future. In this cross-sectional study, it was aimed to determine the prevalence, treatment rate, and awareness of inguinal and genital abnormalities, among Turkish young men. Materials and methods:A total of 2,061 young men in military in İzmir were included into the study. All soldiers were examined by same urologist in a special room, and inguinal and genital abnormalities were recorded. Subjects detected with anomalies were asked for the treatment modalities, age of treatment, treatment results, and awareness about their anomalies. Results:The mean age of the subjects was 20.3±1.0 years (range 19-27 years). A total of 746 anomalies were identified in 681 subjects (33.0%). The anomalies according to frequency were varicocele (24.2%), meatal stenosis (4.0%), penile curvature (2.0%), inguinal hernia (1.8%), undescended testis (1.8%), hypospadias (0.9%), hydrocele (0.7%), atrophic testis (0.4%), and retractile testis (0.4%). Eighteen men (0.9%) were not circumcised. Among the subjects with anomaly, only 35 (4.7%) had operations including varicocelectomy, inguinal herniography, orchiopexy, orchiectomy, and hypospadias repair. Conclusion:The frequency of inguinal and external genital organ anomalies is high among Turkish young men. However, public awareness on this subject is not sufficient, and these anomalies are not treated on time.

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The prevalence of penoscrotal abnormalities and inguinal hernia in elementary‐school boys in the west of Iran

Cited by 12 publications

References 18 publications

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia

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

Frequency and awareness of inguinal and genital organ anomalies among men in military age

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