Hermaphroditism is a rare condition in which ovarian and testicular tissue exist in the same person. The testicular tissue contains seminiferous tubules or spermatozoa. The ovarian tissue contains follicles or corpora albicantia. The condition is the result of a chromosome anomaly.
Among human beings, hermaphroditism is an extremely rare anomaly in which gonads for both sexes are present. External genitalia may show traits of both sexes, and in which the chromosomes show male-female mosaicism (where one individual possesses both the male XY and female XX chromosome pairs). There are two different variants of hermaphroditism: true hermaphroditism and pseudohermaphroditism. There are female and male pseudohermaphrodites. True hermaphroditism refers to the presence of both testicular and ovarian tissue in the same individual. The external genitalia in these individuals may range from normal male to normal female. However, most phenotypic males have hypospadias. Pseudohermaphroditism refers to gonadal dysgenesis.
The most common karyotype for a true hermaphrodite is 46XX. DNA from the Y chromosome is translocated to one of the X-chromosomes. The karyotype for male pseudohermaphrodites is 46XY. Female pseudohermaphroditism is more complicated. The condition is caused by deficiencies in the activity of enzymes. The genetic basis for three enzyme deficiencies have been identified. Deficiency of 3B hydroxysteroid dehydrogenase—Type 2 is due to an abnormality on chromosome 1p13.1. Deficiency of 21-Hydroxylase is due to an abnormality on chromosome 6p21.3. Deficiency of 11B-Hydroxylase—Type 1 is due to an abnormality on chromosome 8q21.
True hermaphrodites are extremely rare. Approximately 500 individuals have been identified in the world to date. Because of the ambiguity of genitalia and difficulties in making an accurate diagnosis, the incidence of pseudohermaphroditism is not well established. The incidence of male pseudohermaphroditism has been estimated at between 3 and 15 per 100,000 people. The incidence of female pseudohermaphroditism has been estimated at between 1 and 8 per 100,000 people.
Signs and symptoms
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.
Treatment and management
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.
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Genetic Alliance. 4301 Connecticut Ave. NW, #404, Washington, DC 20008-2304. (800) 336-GENE (Helpline) or (202) 966-5557. Fax: (888) 394-3937. info@geneticalliance. <http://www.geneticalliance.org>.
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L. Fleming Fallon, Jr., MD, DrPH