Diagnosis requires a team, takes time and involves various steps and tests.
Healthcare for children with DSD involves a specialist or professional team which would ideally include specialists from endocrinology (hormones), urology/gynaecology (kidneys, bladders, genitals) and psychology. Other team members may include nurses, geneticists, neonatologists, and people who work in the laboratories. These ‘multi-disciplinary’ teams are based in some larger hospitals.
When a baby with DSD is born, the medical/midwifery team in the local hospital will care for your baby safely and arrange for some initial tests be done (see the section entitled Tests your baby might need). More specialist tests are usually arranged by the multi-disciplinary team and often involve going to the hospital where they are based.
You, as the parents, play a key role in this whole process!
Once all the necessary results are to hand the health care team will discuss these, and the way forward, with you. Usually this takes a few days. Sometimes it can take longer.
Don’t worry about how to fill in the baby’s birth registration.
In England, Wales and Northern Ireland a birth should be registered within 42 days and in Scotland within 21 days. This is enough time to learn all you need to know before registration is required. Usually discussions about how to bring up your baby take place well before. Birth registration requirements can vary in other countries, so check with your team.
A family psychologist helps ordinary families in extraordinary circumstances
The psychologist can be very helpful in going over the information you have been told and in providing some perspective if the various tests and medical discussions seem overwhelming. They are there to help you think and to work out how you feel.
This can help you manage news about your baby’s birth, how to discuss your child’s condition with other people and, importantly, in the future how you might talk to your child about their condition.
Many families also really appreciate the support of a specialist endocrine or urology nurse to talk through and help them understand what they are learning about baby’s development.
Tests your baby might need
Your baby’s doctors will examine your baby and ask about your family’s medical history. Doctors will check your baby’s chromosome pattern with a blood test.
The chromosome pattern (also known as “karyotype”) helps doctors understand the background to your child’s development and helps them consider in which direction to take the further tests.
The initial karyotype result usually takes 2-3 working days to come back.
Many babies are kept in hospital for the first few days so that salt levels in the blood can be monitored.
Doctors will also measure hormone levels in the blood, and possibly in the urine to see how the adrenal glands and gonads are working.
Ultrasound tests and scans can sometimes show the internal sex organs (such as the womb/ uterus). These are best performed in specialist centres and can sometimes be difficult to interpret.
Doctors might rarely look at the bladder and opening of the vagina with a special ‘telescope’ (cystoscope) and very rarely they might look at the gonads with a laparoscope and examine tissue samples (biopsies) from them.