Diseases and Conditions

Ambiguous genitalia

Preparing for an appointment

If your baby was born with ambiguous genitalia, you may be referred to a medical center with doctors who have expertise in this condition. Here's some information to help you get ready for your appointment and learn what to expect from your doctor.

What you can do

Before your appointment:

  • Ask if there's anything you need to do in advance to prepare your infant for tests and procedures.
  • Discuss family history with your relatives and bring key personal information, including family history of genetic diseases or conditions, such as ambiguous genitalia.
  • Consider taking a family member or friend along. Sometimes it can be difficult to remember all the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.
  • Make a list of questions to ask your doctor.

Questions to ask your doctor may include:

  • What caused my baby's uncertain genitalia?
  • What genetic testing has been completed?
  • What other tests might my baby need?
  • What is the best course of action?
  • What are the alternatives to the primary approach that you're suggesting?
  • Is there a generic alternative to the medicine you're prescribing?
  • Are there any restrictions that my baby needs to follow?
  • Should my baby see any other specialists?
  • What options are there for counseling and support for our family?
  • Are there brochures or other printed materials that I can have? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you several questions, such as:

  • Does your family have a history of ambiguous genitalia?
  • Does your family have a history of other genetic diseases?
  • Do any diseases or conditions tend to run in your family?
  • Have you ever had a miscarriage?
  • Have you ever had a child who died in infancy?

Be ready to answer questions to allow more time to cover other points you want to address.

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