There are a wide range of conditions which fall under the umbrella term of DSD and these can include:
- Androgen insensitivity (complete or partial)
- Congenital adrenal hyperplasia
- Complete/partial/mixed gonadal dysgenesis
- Hypospadias (usually described as severe with undescended testicles noted at birth)
- Vaginal atresia
- Turner’s syndrome
- Swyer syndrome (46,XY gonadal dysgenesis)
- 5-alpha reductase deficiency (5-AR deficiency)
- 46,XY micropenis
- Klinefelter syndrome (47,XXY)
You can read further information about disorders of sex development on the About Kids Health website.
In the past, the term “intersex” was commonly used for conditions which most doctors now call disorders of sex development. Many support and advocacy groups still prefer the term intersex. Contact details for some of these groups are also available.
Information for Families
The disorders of sex development team consists of different professionals who have specific roles working together to offer support, care, advice and education to parents, children and young people.
Having a dedicated team gives parents the chance to hear the perspectives of different professionals when learning about results and evaluating treatment choices. For the specialists, it’s a chance to build and share expertise about these conditions, learn about each family’s cultural and religious beliefs, and understand what is important to them.
Often, the team follows patients from their first days of life all the way through to becoming a young adult, while at Alder Hey we also offer transition services (with the same professionals) to adult care in both Urology and Gynaecology. The team treats infants with genital difference (ambiguous genitalia), sex chromosome anomalies, and sex chromosomes that do not match the external genitalia or internal organs. For some patients with certain conditions, the difference isn’t apparent until they find that puberty is not progressing normally.
These conditions include Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and androgen insensitivity syndrome. Making decisions can be challenging for parents, children and professionals. Throughout childhood, families may have to make decisions about undertaking or embarking on genital surgeries, hormonal treatments, helping their child learn about their body, and what if any medication should be used, while also considering the long-term psychological and reproductive implications. Often there are no obvious right or wrong answers about which way to go forward with your child’s care, and you and your child as they grow up should talk to the team. Understanding the risks and choices involved, including the child or young person’s participation in these decisions, is very important.
There isn’t one right way to manage disorders of sex development that suits all patients, since there are many different reasons why these conditions can happen. Parents and professionals have to work together to make the best decisions they can with the information that is available. Sometimes it can take several days or even weeks to collect all the results from the different tests your child may have had. Decisions about sex assignment or gender can be especially difficult for families. The team encourages the family to express their preferences and talk with the team about any worries and concerns they may have. We know that in the early days it can feel very hard to talk to some friends and family, and the team are here to support you with this as you decide how to share information about your baby with other people.
Being a parent of a child with a disorder of sex development can feel overwhelming at first, and you may feel shocked and anxious about your child’s future: for example, about their future fertility. Talking about your feelings and worries with any member of the team can be helpful: often the psychologist and the nurses can spend time with you listening to your worries.
The team coordinator keeps team members connected (including by organizing consultations, case conferences, and team educational opportunities), and ensures timeliness and continuity in case management.
The genetics team’s role is to help you and your child or young person understand if there is a genetic reason for their DSD. Sometimes a child can be missing a common gene (part of their DNA), or they may have an unusual combination of genes that have made their body develop differently. This could have happened because of a genetic change that could run in families, or just by chance.
The genetics team will arrange for blood tests and may also ask for some blood samples from you as parents. The genetics doctor is an important member of the team and can try to help when answering questions about the chance of this happening again. The genetics doctor can work closely with the gynaecologist and fertility doctors to talk with you about the possibilities of future fertility and reproductive potential for your child.
General Paediatric surgeons work closely with the urology and gynaecology teams. They have skills in reconstructive surgery, which can be especially important when children are born with no bottom opening (anal atresia / imperforate anus) and need life saving surgery.
Learning that your child has a DSD can be difficult. It can be a very intense time for parents; figuring out what to tell friends and family who are calling to congratulate them on the birth of their baby can be stressful. Providing guidance for parents when sharing information about the child with others needs to be addressed early on, and the psychologist can help with this.
Talking about sex assignment and gender roles and behaviour in the future, along with the long-term plan of care, is also an important area to discuss early on, and the team will encourage you to access the psychologist attached to the DSD team. The psychologist works with the other team members and will involve different members of the team when new skills may need to be learnt, such as vaginal dilation in young women diagnosed with vaginal atresia.
Social workers often place emphasis on developing professional leadership around the complex and often highly charged nature of decision making, focusing on leading from a human rights and family centred perspective. Currently we do not have a social worker within our team, but if you feel you would like access to this service, please discuss this with the DSD team at clinic.