An ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. The external sex organs may not match the internal sex organs or genetic sex of the baby. It may be because the genitals are not well-formed or the baby may have characteristics of both sexes.
Symptoms of Ambiguous Genitalia
Infants with two X chromosomes (genetically female) may have:
-
An enlarged clitoris resembling a small penis
-
Closed labia or labia with folds that resemble a scrotum
-
Lumps in the fused labia that feel like testes
Infants with one X and one Y chromosome (genetically male) may have:
-
Hypospadias (urethra not extending to the tip of the penis
-
An abnormally small penis with the urethral opening closer to the scrotum
-
The absence of one or both testicles
-
Undescended testicles and an empty scrotum that appears like a labia
Diagnosis of Ambiguous Genitalia
A physical examination is the first thing done to check for testes and evaluate the baby's genitalia. Later on following tests are performed:
-
Blood tests to measure hormone levels
-
Blood tests for chromosomes analysis and determination of the genetic sex (XX or XY) or
-
Tests for single gene disorders
-
Ultrasound of the pelvis and abdomen to check for undescended testes, uterus or vagina
-
X-ray studies using a contrast dye to help clarify anatomy
Laparoscopic surgery for Ambiguous Genitalia
Laparoscopy is performed to remove all abnormal ductal structures so as to increases the chance of resecting all unidentified gonads. Uterus and vaginal component of the urogenital sinus are removed in patients with male social sex. If required, genitoplasty (change the genitals to correct any irregularities) can also be performed in the same procedure.
