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Disorders of Sexual Differentiation

Who should be suspected
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Disorders of sex development (DSD) contain a cluster of congenital conditions categorised by atypical gonadal and sexual development. It may arise from hereditary defects in or ovary and testis development . The abnormal conditions can be identified at various phases of the life cycle such as foetuses or new-borns with ambiguous external genitalia, internal genitalia, dysgenetic gonads which are discordant for sex chromosome composition. Otherwise, it may be diagnosed later in persons with unanticipated virilisation or delayed puberty, infertility or gonadal tumours. Sexual organ growth is influenced by hormones, chromosomes and certain environmental factors. The cause of a DSD may not always be known. DSD usually is suspected in new-born babies with abnormal genitals; the absence of testis in the scrotum, urethral opening in an abnormal position or small penile length. Sometimes adolescent girls with excessive hair, menstrual problems, delayed or absent puberty can be suspected as disorders of sex development. Diagnosis depends on clinical findings, gonadal histology, hormonal analysis, genetic testing and chromosome analysis.


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