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True hermaphroditism is characterized by ambiguous internal and external genitalia. On internal examination (most often using laparoscopy), there is microscopic evidence of both ovaries and testes. Male pseudohermaphroditism is also characterized by ambiguous internal and external genitalia. However, gonads are often (but not always) recognizable as testes. These are frequently softer than normal. An affected person is often incompletely masculinized. Female pseudohermaphroditism is characterized by female internal genitals. External genitals tend to appear as masculine. This is most commonly characterized by clitoral hypertrophy. Most hermaphrodites are infertile although a small number of pregnancies have been reported.
True hermaphroditism is often diagnosed after laparoscopic investigation. An initial suspicion of male pseudohermaphroditism is often made by inspection of external genitals. This is confirmed by chromosomal analysis and assays of hormones such as testosterone. Initial suspicion of female pseudohermaphroditism is also made by inspection of external genitals. This is confirmed by analysis of chromosomes and hormonal assay. Laparoscopic examination usually reveals nearly normal female internal genitals.
Early assignment of gender is important for the emotional well being of any person with ambiguous genitalia. A decision to select a gender of rearing is based on the corrective potential of the ambiguous genitalia, rather than using chromosome analysis. Once the decision is made regarding gender, there should be no question in the family's mind regarding the gender of the child from that point on.
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 selecting the gender of rearing. Treating professionals must be alert for stress in persons with any form of hermaphroditism and their families.
With appropriate corrective surgery, the appearance of external genitalia may appear normal. However, other problems such as virilization may appear later in life. As of 2001, there is some interest among persons with ambiguous genitalia at birth to reverse their gender of rearing.
Author Info: L. Fleming Fallon Jr., MD, DrPH, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002This feature is for informational purposes only and should not be used to replace the care and information received from your healthcare provider. Please consult a healthcare professional with any health concerns you may have.
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