Syndromes of Abnormal Sex Differentiation
I. Introduction
From the Johns Hopkins Children's Center, this booklet is designed to
help parents and patients understand intersexuality and the challenges that
accompany syndromes of "abnormal" sex differentiation.
Sexual differentiation is a complex process which results in a newborn baby
who is either male or female. If errors in development occur, sexual
development is abnormal and the sex organs of the baby are malformed. In such
cases, individuals may develop both male and female characteristics. This is
referred to as intersexuality.
Children born with deviations from normal development of the sex organs can
be expected to grow up successfully and to lead enriched lives. However, their
problems must be considered carefully. In cases of abnormal sex
differentiation, efforts should be made to determine the reason for the
abnormality as treatment may vary according to the cause of the disorder. There
may also be a need for specific surgical repair and/or hormonal therapy.
Finally, it is extremely important for parents and patients to have a good
understanding of both the condition of sex differentiation that affects them,
as well as possible ways for dealing with the condition. With this approach,
patients will be better able to lead a fulfilled life, and to look forward to
an education, career, marriage, and parenthood.
This booklet has been prepared to help parents and patients better
understand intersexuality and the unique challenges that accompany syndromes of
abnormal sex differentiation. We believe that informed individuals are better
prepared to face these challenges and are more likely to meet successfully the
demands of childhood, adolescence, and adulthood.
First, normal sex differentiation will be described. The understanding of
this pattern of development will help patients and their families to understand
the problems of ambiguous sex differentiation, which are subsequently outlined.
Finally, a glossary of terms and a list of helpful support groups are provided.
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