الفهرس 
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Abstract
“Disorders of sex development (DSD)” is a generalized term for congenital conditions in which there is inconsistency between the development of chromosomal, gonadal and or anatomic sex. It was estimated that the incidence of DSD is 1: 4500 live births worldwide. Currently DSD is classified into sex chromosomal DSD, 46,XX DSD and 46,XY DSD.
In Egypt, It was reported that androgen insensitivity syndrome and 5 alpha reductase deficiency are the two commonest etiologies of 46, XY DSD. Swyer syndrome (Pure gonadal dysgenesis) should be considered in the differential diagnosis of 46,XY DSD with the previous two syndromes although it represents only a minority in etiology of 46,XY DSD.
Steroid 5 alpha reductase deficiency is an autosomal recessive disease caused by defect in 5α-RD2 enzyme which enhances the conversion of testosterone (T) to dihydrotestosterone (DHT). Testosterone induces the virilization of Wolffian ducts into the seminal vesicles, vas deferens, epididymis, Whereas DHT is essential for the masculinization of external genitalia, urethra and prostate in the male fetus.
The external genitalia in steroid 5 alpha reductase deficiency (5α-RD2) exhibits a broad spectrum of phenotype variation ranging from a total female appearance with slight clitoromegaly, labial non fusion, and or distinct vaginal and urethral openings, to a complete male phenotype with mild symptoms of undermasculinization or presenting late by infertility.
The present study was conducted on thirty patients with 46, XY DSD and suspected of having defect in androgen synthesis, metabolism or action.
The patients in this study were subjected to:
1) Full history taking including (sex of rearing, three generation pedigree construction, parental consanguinity and prenatal exposure to drugs, irradiation or environmental hazards).
2) Complete physical examination of patients with careful examination of external genitalia (penile length, position and size of testes, the position of urethral orifice, the presence or absence of scrotal fusion).
3) Assessment of the external genitalia using external masculinization score and Sinnecker scoring.
4) Chromosomal analysis.
5) Pelvi- abdominal ultrasonography.
6) Hormonal profiling including basal T, (T, DHT, T/DHT ratio after HCG stimulation), FSH and LH hormones.
Patients in this study were categorized according to T/DHT after HCG stimulation test into two groups:
group (1): Patients whose T/DHT ratio after HCG stimulation <30, (n=20).
group (2): Patients whose T/DHT ratio after HCG stimulation ≥30, (n=10). The latter group was subjected to Sanger sequencing of SRD5A2 gene, being of higher likehood to have defective gene function.