Ambiguous Genitalia Program

When a baby is born with ambiguous genitalia

At the moment of conception, a baby’s genetic sex is established. In the womb, all babies start with the same tissue that then develops into the male or female sex organs. When this tissue does not fully differentiate into testes or ovaries, or there are hormonal problems, the baby may be born with ambiguous genitalia, genitals that do not look completely male or female.

Normally, when a baby is born the doctor and parents can tell immediately the gender of the child. When healthcare professionals have a hard time determining the sex of a baby, they call the doctors in the Division of Pediatric Endocrinology at Tufts Medical Center.

Once we get the call that a baby has been born with genitalia that have not fully formed, we rush right to the hospital so that we can establish the sex as soon as possible. We know the stress that comes with this uncertainty and are determined to establish the sex as soon as possible, and to help you through every step of the way.

The Division of Pediatric Endocrinology is led by Abdollah Sadeghi-Nejad, MD who has been treating children with disorders of sexual differentiation since 1970. He uses his extensive experience to help your family through the gender assignment process and often monitors these children throughout their childhood and adolescence to ensure that they grow up into healthy, happy adults. In fact, we’ve even had several previous ambiguous genitalia patients who have delivered their babies right here at Tufts Medical Center.

The steps to identifying a child’s gender

When a baby is born with ambiguous genitalia, the first step we need to take is gender assignment. The doctors in the Division of Pediatric Endocrinology will start by asking questions about your family medical history and performing a physical examination. We also use hormone studies, chromosome testing, ultrasounds and other diagnostic tools so that we learn everything that we can about your baby and his or her sex development. Next, we take steps to find out whether your baby is a male or female, and learn more about the reason that caused him/her to develop ambiguous genitalia.

Treatment options

After interpreting the results of the tests, and working with the Divisions of Newborn Medicine, Genetics, Urology, and Psychiatry at Tufts Medical Center, we discuss the cause of the genital ambiguity and treatment options with you.

Often giving patients with ambiguous genitalia the right level of hormones can help the tissues develop more fully as male or female, with or without surgical intervention.  The aim is to provide the baby with normal looking genitals and to allow the child to have normal sexual function as he or she grows up.

To make an appointment, please call 617-636-8100.