Ambigous Genetalia
Occasionally, newborn infants are born with external genitalia that are incompletely developed. This results in understandable anxiety for the parents who are uncertain what to tell their family and friends regarding the sex of their new baby. This situation may also represent a potentially life-threatening medical condition for the baby. At the University Hospital a team consisting of pediatricians, pediatric surgeons, pediatric endocrinologists, obstetricians, and reproductive endocrinologists is rapidly assembled to carefully evaluate the baby. Rather than a chromosomal problem, there is most often a hormonal abnormality that results in the incomplete formation of the genitalia. While ascertaining and stabilizing the baby's immediate condition, the team also diagnoses the gender of the baby. In almost all cases, the babies do well but may need ongoing hormonal treatment and/or eventually surgery to correct abnormalities.
There are rare families in which the problem of gender determination abnormality is genetic and carries a strong possibility of recurrence in future offspring. In these circumstances, couples are referred to the Prenatal Genetic Counseling Center at the University Hospital where maternal treatment can be initiated during pregnancy in an attempt to diminish the resulting abnormalities for their infants. "21-hydroxylase deficiency", resulting in abnormalities of sex hormone release causing ambiguous external genitalia, is the most common reason for maternal treatment during pregnancy to reduce the genital structural abnormalities.
