(This section is based on an earlier document by Achermann.)
Who's who in the medical team?
Diagnosing and caring for babies and children with differences of sex development involves the combined skills of different specialists. Having several different doctors involved can be confusing or worrying, and trying to understand everyone’s role is not always easy. It is only when the information from various types of health care is seen together (e.g. blood analysis, genital appearance of the child, genetics, mental wellbeing of family and child, etc) can diagnosis be made and best care planned.
Here, we describe the people who make up the multidisciplinary, multi-professional or interdisciplinary team (different terms are used, but usually you’ll hear “MDT”) and we briefly explain what they do.
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 differences of sex development 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 differences of sex development, the paediatric endocrinologist will usually be involved in helping children and young people with different hormone issues, such as diabetes, thyroid problems or poor growth.
Clinical nurse specialist
Most teams have a specialist endocrine nurse or 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. They help keep your child’s needs at the centre of everything the team do. They work closely with the psychologist to help you and your child understand everything and they help the team understand you.
A clinical psychologist (or other psychological health professional) works with families who require different kinds of hospital care. They are experts in understanding children’s emotional development and behaviour and in talking to children in a way that children can easily understand. The psychologist can explain complicated medical things to you in a less complicated way and can be very helpful in re-thinking the information you have been told. They will also help you work out how you want to deal with tricky or stressful situations in relation to your child’s health. An important area for discussion with the psychologist is how to share information with your child as they get older. Psychologists also help the whole team (MDT) think about psychological aspects of care.
Some psychologists have very specialist expertise in differences of sex development in children, whereas others may also see children with other issues such as long-term illness, emotional or behavioural concerns and they may have general advice on coping with the health care.
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 feel for testes. Sometimes they will use scans 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 can look inside the bladder or lower abdomen with a small telescope. The urologist will explain their findings to you and discuss what they mean. Sometimes 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 differences of sex development, a urologist will care for children with complex bladder problems, issues with the kidneys, and other conditions affecting the testes. In the UK a doctor who qualifies as a surgeon is called “Mr” or “Miss”, not “Dr”. This can be confusing!
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 or may assess a girl’s genital area and internal structures in teenage years. They will be able to tell your daughter about possible treatments in adolescence and adulthood. Gynaecology treatment can include medical, surgical and stretch treatments as well as advice. Gynaecologists are also experts in how a woman’s body works in relation to sex and fertility.