Endocrinology and Diabetes

Differences of sex development

  • What is a DSD? 

    This website gives some information for young people and families of children who have variations in parts of their body associated with sex/reproductive development. This group of variations may affect the reproductive organs and the genito-urinary development while a baby is growing inside the uterus.

    For some people, their genitals may look different, or they may have delayed puberty or differences in production of hormones. Some people may have differences in their chromosomes or reproductive organs that mean that certain areas of the body did not develop as expected. Sometimes there may also be differences in other parts of the body (e.g., growth, heart, kidneys).

    Medical treatment may be recommended for some people – this depends on the variation or diagnosis.  Some people may need to have hormone therapies to maintain their health and well-being. Surgery may be an option for some.   At times, the exact underlying reason for a genital variation is not clear – this will be discussed with you if this is the case for your child.  For some, genetic testing (either on a research basis or through an accredited clinical lab if available) may help to further explore underlying causes.

    Contact us – DSD multidisciplinary team

    Peer Support events coming up!


    'Differences' or 'disorders’ of sex development (DSD) is an umbrella term used to describe this group of conditions in a medical setting. DSD is a term used in the medical literature; however there are many alternative names to DSD such as 'intersex variations' or 'variations of sex characteristics'. People may not have heard these terms used by their doctors as they may have mainly used the name of their particular condition.

    You may prefer one term over another; please let your doctor and healthcare team know what you prefer. There is no right or wrong name, different people identify with different terms.

    Differences of sex development include conditions such as

    • Congenital adrenal hyperplasia
    • Androgen insensitivity syndrome (complete or partial)
    • Gonadal dysgenesis (complete, partial or mixed) including Swyer syndrome
    • Hypospadias
    • Klinefelter Syndrome and other X & Y chromosomal variations (Triple X syndrome, XXYY syndrome etc)
    • Turner syndrome 
    • Premature ovarian insufficiency
    • Mayer Rokitansky Kuster Hauser Syndrome (MRKH) – including Vaginal or Uterine agenesis
    • Cloacal anomalies
    • 5-alpha reductase deficiency & 17 Beta-HSD deficiency
    • Other XY DSD
    • Other XX DSD
    • Ovotesticular DSD

    The RCH team

    Our team meet many families every year who have children that have a variation in their sex development.

    At the Royal Children’s Hospital, we have a multidisciplinary team (MDT) of specialists that include: a Clinical Coordinator, Urologists, Endocrinologists, Gynaecologists, Social Workers, Nurses, Geneticists, Researchers and others. The aim of this team is to provide optimal care, as recommended in international clinical guidelines, our MDT meets monthly to discuss individual cases to discuss what investigations or further management plans (if any) are needed to either establish the cause of a child’s variation or to help support optimal outcomes for the children and adolescents we meet.


    Our current projects are

    • Peer support evaluation – Aiming to understand if a RCH peer support network is useful to families and individuals
    • Developing resources for families and adolescents – Aim to identify the types and timing that resources would be valuable for families and individuals

    For patients and families

    Parents with newborns

    Atypical genitalia

    Our team meets lots of families every year where there is some concern regarding some aspect of their baby’s development or genital appearance. So while you may be feeling confused at the moment, please know that your baby is not alone in having this variation and things are going to be OK.   Don’t forget to take the time to enjoy and cherish your baby, for all babies are different and will develop their own personality and character.

    Differences in genital appearance can happen for a number of reasons that may be to do with differences in the development of the ‘gonads’ (testes or ovaries), or hormonal signals that are responsible for the development of the genitalia during pregnancy, or may be a chance development.  For some babies, this may mean that it is not obvious from looking at the genitalia whether your baby is a boy or a girl. The team will work with you to work out your baby’s sex, but sometimes we need a bit of extra information to work with you to make the best decision for your baby.

    Guides and information sheets for parents of children with ambiguous genitalia.

    Prenatal genetic screening and determining the sex of your baby

    There are numerous prenatal screening tests available for expecting parents, sometimes these tests are used to predict the sex of your baby. Maybe you had a prenatal test that suggested your baby was a boy, but when your baby was born they did not match the sex you were expecting.

    These differences may mean that it will take a little longer than usual to decide the sex of your baby. Doctors will work with you to make the best decision for your baby, as the parents, you play an important role in this process.

    Our baby was born the sex was not what our prenatal testing indicated

    When our baby was born their sex was not what our prenatal testing indicated’ – differences in sex development


    General support and counselling services

    Information about puberty

    Peer networks and resources

    There are many peer support groups and online resources available for families.

    For general information about differences/variations of sex development for families

    Resources that assist in opening up discussion and questions around differences in sex development between parents/carers and their children/adolescents

    Androgen Insensitivity Syndrome (CAIS and PAIS)

    Klinefelters and X and Y chromosomal variations

    Turner syndrome and variations

    MRKH (Vaginal Agenesis / Uterine agenesis / MURCS and others)


    Congenital adrenal hyperplasia

    General information for young people

    If there is a peer support group that you are aware of that we have not mentioned here please contact the Clinical Coordinator on (03) 93457033 or The RCH Department of Endocrinology or the RCH Department of Paediatric and Adolescent Gynaecology