Case Study: Gender Discrepancy | The Children's Hospital of Philadelphia

Center for Fetal Diagnosis and Treatment

Case Study: Gender Discrepancy

Maternal History

Penile Urethra
Ultrasound image of normal appearing male genitalia

A 42-year-old G8P5116 female of Caucasian descent was evaluated at 22 weeks gestation due to a finding of gender discrepancy between karyotype and ultrasound.

Routine amniocentesis, performed at 16 weeks gestation for advanced maternal age, documented a 46, XX, normal female karyotype, while the pre-procedural ultrasound evaluation showed normal male genitalia.

Given this scenario, what diagnoses should be considered in the differential?

  1. Congenital adrenal hyperplasia (CAH)
  2. 46, XX testicular disorder of sex development (DSD)
  3. Maternal cell contamination (MCC)
  4. Androgen insensitivity (AI)
Female Karyotype
Image of a normal female karyotype.
Image provided by the CHOP Cytogenomics Laboratory

Repeat amniocentesis, performed at 20 weeks gestation, confirmed the finding of a normal 46, XX karyotype and the presence of normal male external genitalia. Fluorescence in situ hybridization (FISH) studies demonstrated a copy of the SRY gene (sex-determining region of Y) on the short arm of one of the X chromosomes.


A detailed review of family, medical and pregnancy history was unremarkable for the presence of any known genetic conditions, structural anomalies and teratogenic exposures. Consanguinity was denied. Repeat targeted sonography revealed an appropriately grown fetus without apparent structural anomalies and normal-appearing male external genitalia.

Pregnancy and Delivery Course

The patient had a routine prenatal course and uneventful full-term vaginal delivery of a 3kg infant with normal external male genitalia. All newborn screening tests were within normal limits. A scrotal ultrasound revealed normally appearing bilaterally descended testicles. No Mullerian structures were identified on pelvic ultrasound. Infant and mother were discharged following a 48-hour hospital stay.


  1. What additional studies, if any, might be considered?
  2. How should this family be counseled?
  3. What are the long-term implications of this diagnosis for this child?
  4. Are there any other services that should become involved with this family?

Go to the answers for gender discrepancy »

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