What it is
There are many different causes, including congenital adrenal hyperplasia and androgen insensitivity syndrome. Some need medical treatment, for example hormone replacement.
Care is provided by specialist teams, including psychological support. Decisions about surgery that are not urgent are often delayed until the person can take part.
Common signs
- Genitals that look different from typical at birth
- Puberty that does not start or happens differently
- Periods not starting
- Difficulty having children
How it is usually diagnosed
- Chromosome tests (karyotype)
- Hormone blood tests
- Ultrasound or MRI of the pelvis
- Genetic testing
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Genetic and hormone test results
- Imaging reports
- Specialist team letters
- Hormone treatment plans
Questions to ask your doctor
- What is the specific cause?
- Does it need any treatment now, or can decisions wait?
- What support is available for us?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- A newborn who is vomiting, not feeding and very drowsy, which can be a salt-losing crisis in some DSD conditions: call 112
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.