Great Ormond Street Hospital for Children NHS Foundation Trust: Information for Families
Disorders of sex development (DSDs)
This information sheet from Great Ormond Street
Hospital explains the causes, symptoms and treatment
of disorders of sex development and where to get help.
Disorders of sex development (DSDs)
are a group of conditions in which the
reproductive organs and/or the genitals
do not develop normally.
It is estimated DSDs affect less than two
per cent of the UK population.
What causes a disorder of
sex development?
Sometimes a DSD happens because the
child has something other than either the
XX (female) or the XY (male) chromosome
pattern. This can happen because of
genes passed down through families, or
because of a genetic change that happens
by chance. In many cases, doctors just
don’t know why a DSD occurred.
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„„Genetically male with female-looking
genitals. This condition may mean the
testes are not properly formed, do not
work properly or that the male sex
hormones (androgens) are not effective.
There are several different causes. The
most common is androgen insensitivity
syndrome, where the body ignores the
androgens or is insensitive to them.
Genitals develop along female lines
and the testes usually remain inside the
body.
There are different types of DSD. The
different types and the most common
causes for these include:
„„A mix of male and female
characteristics. People with this type
of DSD may have male chromosomes,
female chromosomes or both. Physically,
they have both ovarian and testicular
tissue (for example, one ovary and one
testis), and their genitals may appear
female, male or a mix of both. The
cause is a problem with your gene
make-up.
„„Genetically female with male-looking
genitals. The most common cause for
this is a condition called congenital
adrenal hyperplasia (CAH). A person
with CAH lacks a particular enzyme
(protein) that their body needs to make
the cortisol and aldosterone hormones.
Without these, the body produces more
androgens (male sex hormones), which
causes male characteristics to appear.
„„Normally formed genitals but abnormal
sexual development. With this for of
DSD, a person may have normallyformed male or female sex organs but
may not go through normal sexual
development in puberty. The cause
of this is that they do not have the
normal male (XY) or female (XX) set of
chromosomes. For example, they may
only have one X chromosome (XO), or
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© GOSH NHS Foundation Trust April 2012
they may have an extra chromosome
(XXY). Doctors refer to this condition
as sex chromosome DSD. An example is
condition called Turner syndrome where
a female is missing an X chromosome.
Girls or women with Turner syndrome
are usually infertile and their height is
shorter than average.
What are the signs and
symptoms of a disorder
of sex development?
In most cases the obvious sign that a
person has a disorder of sex development
is that their genitals may not resemble
those typical of a male or female. This is
usually picked up from birth. However in
some cases a person may have a normal
appearance of the genitals but abnormal
sexual development. In cases like these
other signs and symptoms may be
present, especially during times of sexual
development such as puberty.
These signs and symptoms may include:
„„Absent or incomplete development at
puberty, including sparse pubic hair and
small breasts
„„A broad, flat chest shaped like a shield
„„Drooping eyelids or dry eyes
„„No periods (absent menstruation)
„„Short stature
„„Undescended testes
„„Small testicles
„„Breast development in males
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How is a disorder of sex
development diagnosed?
If you are concerned that a child may
have a DSD, speak to a GP. They will be
able to refer the child to a specialist,
usually a consultant in paediatric
endocrinology.
The consultant will then be able to
introduce the child to a team of different
healthcare professionals who will work
together to understand the condition and
offer the child support and advice.
How is a disorder of sex
development normally
treated?
A person diagnosed with a DSD will
be monitored closely and treated by a
number of different medical professionals.
Treatment may include offering medical
procedures, including surgery, as well as
psychological and emotional support.
Care providers treating these conditions
are very sensitive and are aware that what
is normal for one individual may not be
what is normal for others. This means that
they are unlikely to force a patient into a
social norm that may harm the patient.
A patient will be encouraged to discuss
their fears and worries about the condition,
how it makes them feel and how they wish
to approach any treatment options.
Surgery and hormonal treatments are
sometimes offered. These work by helping
change the outward appearance of the
genitals and preventing further unwanted
changes. However sometimes these
operations are not successful and as with
all major surgery, they pose some risks.
© GOSH NHS Foundation Trust April 2012
Some patients find they need several
operations over the course of several
years to make a proper difference.
Psychosocial support is likely to be offered
to parents of a child diagnosed with a
DSD as well as to the child as they get
older. Those diagnosed later in life will
also be offered support.
All treatment options will be discussed
with the child’s parent so they can then
make informed decisions on corrective
surgery and hormone medications.
Can a disorder of
sex development be
prevented?
DSDs cannot be prevented because the
majority are the result of your genetic
make-up. However pregnant women with
a family history of any of the conditions
which can result in a DSD can sometimes
receive screening to check if their baby
is affected. This is usually offered early
in the pregnancy and would be carefully
discussed with a geneticist.
What happens next?
Being a parent of a child with a DSD
can feel overwhelming, depressing, or
confusing.
Talking about these things gets these
feelings out of your head and out into
the open, and allows you to see and think
more clearly.
It’s important to remember that with the
right care and support, most people with
DSDs come to terms with their condition
and live very happily.
Notes
Compiled by the GOSH web team
Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH
www.gosh.nhs.uk
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© GOSH NHS Foundation Trust April 2012