- Medical and Psychological Information
- Anticipatory time line for the medical care of DSD children and young adults
- Who’s who in the medical team?
- Sex Assignment
- Surgery in infants and children with DSD
- Surgery in boys
- Management of gonads in DSD
- When does Osteoporosis start to matter?
- A beginner’s guide to sex hormone replacement
- Vaginal Hypoplasia
- Explaining DSD to family members in case of an inherited link
- Genetics and the pattern of inheritance of DSD
- Engaging confidently with doctors
- Genital examination: when and how?
An information and support resource for families with children, teens and young adults who have a DSD
Who’s who in the Medical Team?[PDF]
John Achermann, Paediatric Endocrinologist, UCL Institute of Child Health and GOSH, London (UK)
Diagnosing and caring for babies and children with a DSD involves the combined skills of a number of specialists. Having several different doctors involved can be confusing –sometimes even worrying-, especially early on, and understanding everyone’s role is not always easy. But it is important to know that only when the perspectives from various specialisms are put together (e.g. blood analysis, genital appearance of the child, genetics, mental wellbeing of family and child, etc) that diagnosis and optimal care can be decided upon.
Here, we describe the people who make up the multidisciplinary (or interdisciplinary) team (the so called “MDT”) and briefly outline their likely input.
The paediatric endocrinologist
A paediatric endocrinologist is a doctor who specialises in children’s hormones. Hormones are the chemical signals that are released by the body and include “sex hormones” such as testosterone and oestrogen. A paediatric endocrinologist will be knowledgeable about the causes and management of the many different forms of DSD, and will be involved in discussing the process of diagnosis with you, planning any hormone tests that might be needed, and explaining the results.
Hormone treatment will be needed by some children, especially at the time of puberty, and the paediatric endocrinologist will be responsible for monitoring this.
As well as dealing with children and young people with DSD, the paediatric endocrinologist will usually be involved in managing children and young people with other hormone issues, such as diabetes, thyroid problems or poor growth.
The paediatric urologist
A paediatric urologist is a doctor who has trained as a children’s surgeon and who has special expertise in conditions affecting the kidneys, bladder, testes (testicles) and genitals.
The paediatric urologist will examine your child’s genitalia and see if testes can be felt. Sometimes, scans will be requested to look for internal structures such as a uterus (womb) or ovaries, or testes that might be hidden inside the groin or lower part of the abdomen (tummy). Occasionally, the urologist will recommend examining your child in more detail when they are asleep with a brief anaesthetic. They may advise looking inside the bladder or lower abdomen with a small telescope. The urologist will explain their findings to you and discuss the significance of these. They will provide information about the potential benefits or risks of any operations and provide information about the likely long-term care needs.
As well as dealing with children with DSD, a urologist will care for children with complex bladder problems, issues with the kidneys, and other conditions affecting the testes. (Note: In the UK a doctor who qualifies as a surgeon is called “Mr” or “Miss”, not “Dr”. This can be confusing!).
The psychologist (or psychiatrist)
A clinical psychologist supports ordinary families in extraordinary circumstances. They are experts in understanding children’s emotional development and behaviour and in engaging and talking to children in a way that children can easily understand. The psychologist can explain complicated medical things to you in a less complex way and can be very helpful in reviewing the information you have been told and in providing some perspective if the diagnostic process appears overwhelming. They will also give you support in dealing with tricky or stressful situations, such as how to discuss the need for gender assignment, or the diagnosis, with other people and, importantly, how to share information with your child as they get older.
Some psychologists have very specialist expertise in DSD and gender in children, whereas others may also see children with other issues such as long term illness, or emotional or behavioural concerns.
Other healthcare professionals who you may have contact with include:
The general paediatrician or neonatologist
These are the children’s doctors in your local hospital or maternity unit who are involved in the assessment of your child soon after they are born and who will refer you to the appropriate specialists in DSD.
A radiologist is a doctor who is experienced in performing scans to look inside the body, such as ultrasound scans or magnetic resonance imaging (MRI). They will be able to describe their findings and report back to the MDT. Sometimes scans are undertaken by a radiographer.
Some forms of DSD are due to an imbalance in chromosomes or to a variation in your child’s genetic code (DNA/genes). Often these conditions just happen by chance, but sometimes they can be passed to the child (inherited) from the mother, the father or both parents. This is a complicated area to understand initially and varies a lot depending on the specific condition. A clinical geneticist can help to explain the likelihood of a genetic condition being at the root of your child’s DSD, and can counsel (guide) you about what genetic tests might be useful. This might provide information as to whether other members of your families may possibly be affected or “carry” a condition, and also whether further children you have may possibly have a similar kind of DSD.
A clinical geneticist usually gets involved once a likely diagnosis has been reached. In practice, DSD will only make up a small part of their workload and they will see children and families with a wide range of conditions affecting genes or chromosomes, such as cystic fibrosis, muscular dystrophy or sickle cell anaemia.
A gynaecologist is a surgically trained doctor who specialises in the assessment and surgery of the vagina, uterus (womb) and ovaries. A paediatric gynaecologist may be involved in your child’s care at an early stage, but will be important for assessing a girl’s vagina (and womb if present) in teenage years. They will be able to provide support and guidance on the use of vaginal dilators if this is the most appropriate approach, and determine whether any surgery might be required when the young person wishes to become sexually active.
Clinical nurse specialist
Some MDTs have a clinical nurse specialist (“CNS”) who helps coordinate meetings and tests and who can act as a point of contact. A CNS can provide invaluable support and information to you, especially if they have extensive experience of working with children with DSD and their families.
Other members of the MDT
Other members of the MDT who you are unlikely to meet personally are a clinical biochemist (who helps measure hormones and interpret the results of tests) and a histopathologist (who looks at samples down the microscope, which is rarely needed, to see if a structure is an ovary or a testis, and how well formed it is). Occasionally, the expertise of a medical ethicist will be obtained to help the team work through complex or challenging situations, or a religious leader may be consulted if the family have strong religious or cultural views and need appropriate guidance.
Sometimes your general practitioner (GP/primary care doctor) can be overlooked in the whole process as they are unlikely to have much experience of children with DSD. However, your GP can be a great source of support for you and your family, and may be involved in prescribing certain medicines if needed or for giving injections as part of a hormone stimulation test.
Although all these people may seem overwhelming, you are unlikely to meet them all at the same time. Most centres have regular MDT meetings, though, and information will be discussed with you afterwards by a smaller group of key people.
Don’t forget: Your views and feelings are critical and parents should consider themselves as an important part of the team!
Role of family, friends and peer support
Receiving support outside the MDT can play an important role in the wellbeing of the family.
Whilst some families are happy to discuss their child’s condition with selected members of family and friends, and draw a lot of support from it, others will rarely discuss it beyond their closest family. There is no right or wrong approach to this; experience suggests that families who can discuss the condition and receive social support are feeling more relaxed about the condition and long term wellbeing of their child.
Peer support can be obtained by connecting with other families who have experienced or are experiencing similar circumstances. This support can be very helpful in getting a longer term perspective on what the diagnosis means, and in learning about and exchanging practical information about raising children with a DSD.
Your doctors might be able to put you in touch with local families, and/or work together with you in hosting dedicated meetings for affected families.
Transition to adult care
In general the paediatric MDT (or “adolescent” team) will oversee care for your child until the teenage years and when puberty is complete. A child will then move into adult services, where an adult MDT will support their longer-term health and care needs. This process is called “transitioning”. Some young people who first present with DSD in adolescence may move to adult doctors fairly soon after diagnosis and other people with DSD may even be diagnosed by adult doctors initially. Adult DSD services are not yet well established in many places, but will be an important resource in the future to ensure people with DSD get any ongoing support that might be appropriate.