Can You Be Intersex with Normal-Appearing Female Anatomy?
Yes, certain intersex conditions can present with completely normal-appearing female external genitalia and internal organs, and these may only be discovered incidentally on imaging studies like CT scans performed for unrelated reasons. 1, 2
Intersex Conditions That May Present with Normal Female Anatomy
Several disorders of sex development (DSD) can manifest with phenotypically normal female anatomy:
Complete Androgen Insensitivity Syndrome (CAIS): Individuals with 46,XY karyotype who are completely unresponsive to androgens develop normal-appearing female external genitalia, a vagina, and breast development at puberty, but have intra-abdominal or inguinal testes instead of ovaries and lack a uterus and fallopian tubes. 3, 4
Swyer Syndrome (46,XY Complete Gonadal Dysgenesis): These individuals have a 46,XY karyotype but develop as phenotypic females with normal external genitalia, a uterus, and fallopian tubes due to non-functional streak gonads that produce neither testosterone nor anti-Müllerian hormone. 3
True Hermaphroditism (Ovotesticular DSD): Some individuals with ovotesticular tissue can present with predominantly female phenotype and may have relatively normal-appearing female anatomy, though this varies considerably. 1, 2
How These Conditions Are Discovered
Incidental findings on CT or ultrasound imaging performed for other indications may reveal unexpected gonadal anatomy:
- Absent uterus and ovaries in a phenotypic female with intra-abdominal testes (CAIS) 1, 4
- Streak gonads or ovotesticular tissue in unexpected locations 2
- Discordance between external phenotype and internal reproductive structures 1
Clinical Implications for a 32-Year-Old Patient
For an adult patient assigned female at birth who has lived as female, several clinical considerations are critical:
Gender identity is typically well-established by age 32, and the patient's self-identified gender should guide all clinical care and documentation. 5, 6
A complete organ inventory must be documented to ensure appropriate screening and preventive care, regardless of external appearance or gender identity. 6
Gonadal surveillance is essential if dysgenetic gonads or intra-abdominal testes are present, as these carry significant malignancy risk (gonadoblastoma, dysgerminoma). 5
Hormone status should be assessed, as some intersex conditions require lifelong hormone replacement therapy for bone health, cardiovascular health, and quality of life. 6
Common Pitfalls to Avoid
Do not assume surgical or hormonal status based on external appearance alone. Many intersex conditions present with completely normal phenotypic appearance but have significant internal anatomical variations. 5, 6
Avoid using outdated or stigmatizing terminology such as "hermaphrodite" or "pseudohermaphrodite" in clinical documentation; use "disorders/differences of sex development" or specific diagnostic terms. 4, 7
Never disclose intersex status in public clinical areas (waiting rooms, reception areas) as this violates patient privacy and can expose patients to discrimination or harassment. 5
Ensure that electronic health records allow documentation of organ inventory independent of listed sex/gender, as sex-specific templates may prevent appropriate documentation and ordering of necessary tests. 5, 6