الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Disorders of sex development (DSD) arise as a result of a mismatch between the genetic, gonadal and phenotypic sex and are the result of early disruption in the programming of sex determination. DSD replaced old terms as intersex, peudohsermaphroditism, hermaphroditism and sex reversal. Criteria that suggest DSD include overt or suspecet genital ambiguity, male with bilateral undescended testes, micropenis or hypospadias, a family history of DSD such as CAIS. Most causes of DSD are recognized in the neonatal period. Later presentations in older children and young adults include inguinal hernia, delayed or incomplete puberty and progressive clitoral enlargement in female and breast development or cyclic hematuria in male. DSDs can be subdivided into three main groups: sex chromosome disorders (eg: Klinefelter syndrome, Turner syndrome), disorders associated with under-virilization of 46 XY individuals (46 XY DSD) and disorders associated with virilization of 46 XX subject (46 XX DSD). 46 XY DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinisation, and the presence or absence of mullerian structures. Complete absence of virilization results in normal female external genitalia and these patients generally seek medical attention at pubertal age, due to the absence of breast development and or primary amenorrhoea. Male gonad(s) are palpable in the majority of 46,XY DSD patients.