Pseudo-hermaphroditism

Alternative names
Hermaphroditism; Hermaphrodite; Intersexual

Definition
Hermaphroditism is a term referring to being of both sexes (intersexual).

Causes, incidence, and risk factors
True hermaphroditism requires the presence of both ovarian (female) and testicular (male) reproductive tissue and is relatively rare and poorly understood. Pseudo-hermaphroditism is more common. From a medical standpoint, hermaphroditism suggests two factors:

• ambiguous external genitalia
  
• genitalia that do not match the genetic make-up of the person (example: female genitalia in a genetically male individual)

The following conditions can produce ambiguous genitalia and hermaphroditism:

• congenital adrenal hyperplasia
  
• fetal exposure to sex hormones
  
• testicular feminization syndrome
  
• XY gonadal dysgenesis
  
• XY gonadal agenesis
  
• chromosomal abnormalities
  o cryptophthalmos
  o Smith-Lemli-Opitz
  o 4p syndrome
  o 13q syndrome

Symptoms

• ambiguous genitalia at birth
  
• unusual appearing genitalia at birth

Signs and tests

• chromosome analysis
  
• hormone levels (for example, testosterone level)
  
• endoscopic examination (to verify the absence or presence of a vagina or cervix)
  
• ultrasound to evaluate whether internal sex organs are present (for example, a uterus)

Treatment

The family of the infant needs to be informed of the child’s condition as early as possible. It is a very sensitive time, requiring compassion and guidance to avoid feelings of guilt, shame, or discomfort.

Early assignment of the sex is important for the emotional well being of the person. In large part, the decision is based on the corrective potential of the ambiguous genitalia, rather than on chromosomal determinants. The initial care should include a team of professionals that include neonatologists and pediatric specialists, endocrinologists, radiologists, urologists, psychologists, and geneticists.

All of these specialists will focus on what is in the best interest of the child and family. Once the decision is made regarding sex, parents should be left with no ambiguity in their minds as to the gender of the child.

Corrective surgery is used to reconstruct the external genitalia. In general, it is easier to reconstruct female genitalia than male genitalia, and the ease of reconstruction will play a role in the determination of sex.

Expectations (prognosis)
With corrective surgery, the appearance of external genitalia may appear normal. However, childbearing potential will depend on the underlying cause for the aberrant appearance of the genitalia.

Calling your health care provider
Hermaphroditism will typically be diagnosed while your child is in the hospital. If you notice that your child has unusual appearing or multiple genitalia, call your health care provider.

Prevention
Please see the individual conditions.

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