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Intersex - Symptom

Alternative Names

Disorders of sex development; DSDs; Pseudohermaphroditism; Hermaphroditism; Hermaphrodite

Symptoms:

The symptoms associated with intersex will depend on the underlying cause, but may include:

Ambiguous genitalia at birth
Micropenis
Clitoromegaly (an enlarged clitoris)
Partial labial fusion
Apparently undescended testes (which may turn out to be ovaries) in boys
Labial or inguinal (groin) masses -- which may turn out to be testes -- in girls
Hypospadias (the opening of the penis is somewhere other than at the tip; in females, the urethra [urine canal] opens into the vagina)
Otherwise unusual appearing genitalia at birth
Electrolyte abnormalities
Delayed or absent puberty
Unexpected changes at puberty

Signs and tests:

Chromosome analysis
Hormone levels (for example, testosterone level)
Hormone stimulation tests
Electrolyte tests
Specific molecular testing
Endoscopic examination (to verify the absence or presence of a vagina or cervix)
Ultrasound or MRI to evaluate whether internal sex organs are present (for example, a uterus)

Reviewed last on: 8/2/2011
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Allen L. Disorders of sexual development. Obstet Gynecol Clin North Am. 2009;36:25-45.

Donohoue PA. Disorders of sex development (intersex). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 582.

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