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Abstract
Despite the recent advances in the diagnosis of DSD, sexual development is still an unclear area.
This is due to the facts of our tradition and culture as Middle Eastern people.
Our work aimed towards the identification of DSD cases with the determination of causes and/or risk factors in each case.
This study was conducted in the period from November, 2007 to February, 2009. Cases were obtained from the Genetics and Endocrinal Unit(Molecular Laboratory), Pediatrics department, Faculty of Medicine,Minoufiya University.
They were referred to us from the entire Delta region.
In the process of completion of this paper, 13 cases were studied. Of these cases, there were 10 genetic females and 3 genetic male patients.
There ages ranged from the first week up to eight years.
All the cases were subjected to the following:
1. Detailed history.
2. Through clinical examination.
3. Routine investigations.
4. Hormonal investigations:
a. ACTH.
b. Cortisol.
c. 17-5. Imaging studies: pelvi-abdominal ultrasound, MRI.
6. Cytogenetic study: mainly consists of Chromosomal karyotyping.