Screening of genital anomalies in newborns and infants in two egyptian governorates.
BACKGROUND
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.


OBJECTIVE
To detect the incidence of external genital anomalies and disorders of sex development (DSD) in Great Cairo and Qalyubiyah governorates.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Mazen
I
I
Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Center, Giza, Egypt. doctormazen@hotmail.com
El-Ruby
M
M
Kamal
R
R
El-Nekhely
I
I
El-Ghandour
M
M
Tantawy
S
S
El-Gammal
M
M
D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000453:epidemiology*; D004534:Egypt / Q000453:epidemiology; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010865:Pilot Projects; D015995:Prevalence