Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Center, Giza, Egypt.
Horm Res Paediatr. 2010;73(6):438-42. doi: 10.1159/000313588. Epub 2010 Apr 20.
External genital anomalies are among the most common congenital anomalies. Proper early diagnosis and management of genital abnormalities are of great importance to minimize medical, psychological and social complications.
To detect the incidence of external genital anomalies and disorders of sex development (DSD) in Great Cairo and Qalyubiyah governorates.
20,000 newborns and infants up to the age of 6 months coming for compulsory vaccination at primary health care units and centers in Great Cairo and Qalyubiyah governorates were examined in the years 2006-2007 for suspected genital anomalies.
There were 187 (93.5/10,000) cases with external genital anomalies among the screened 20,000 participants. Various abnormalities in the form of 46,XY DSD, undescended testis, hydrocele, hypospadias, micropenis, synechia of the labia and other genital anomalies were diagnosed and classified after thorough clinical examination, and hormonal, radiological, and laparoscopic investigations.
This first pilot study in Great Cairo and Qalyubiyah governorates showed a relatively high incidence of genital anomalies and DSD. Therefore, we recommend more studies including larger population sizes to detect the actual incidence of genital anomalies and DSD in Egypt in order to serve those patients and their families.
外生殖器异常是最常见的先天畸形之一。正确的早期诊断和处理生殖器异常对于将医学、心理和社会并发症最小化非常重要。
在大开罗和盖勒尤卜省检测外生殖器异常和性别发育障碍（DSD）的发生率。
2006-2007 年，对大开罗和盖勒尤卜省初级保健单位和中心前来进行强制性疫苗接种的 20,000 名新生儿和 6 个月以下的婴儿进行了疑似生殖器异常检查。
在筛查的 20,000 名参与者中，有 187 名（93.5/10,000）患有外生殖器异常。经过彻底的临床检查，以及激素、放射学和腹腔镜检查，诊断和分类了各种形式的 46,XY DSD、隐睾、鞘膜积液、尿道下裂、小阴茎、阴唇粘连和其他生殖器异常。
这是大开罗和盖勒尤卜省的首次试点研究，显示出较高的生殖器异常和 DSD 发生率。因此，我们建议进行更多包括更大人群的研究，以检测埃及生殖器异常和 DSD 的实际发生率，从而为这些患者及其家属提供服务。
