$Unique_ID{BRK03817} $Pretitle{} $Title{Hermaphroditism, True} $Subject{Hermaphroditism True Hermaphrodism Hermaphroditism Androgynism Klinefelter's Syndrome Pseudohermaphroditism Female Pseudohermaphroditism Male Turner Syndrome } $Volume{} $Log{} Copyright (C) 1990 National Organization for Rare Disorders, Inc. 772: Hermaphroditism, True ** IMPORTANT ** It is possible that the main title of the article (True Hermaphroditism) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hermaphrodism Hermaphroditism Androgynism Information on the following diseases can be found in the Related Disorders section of this report: Klinefelter's Syndrome Pseudohermaphroditism, Female Pseudohermaphroditism, Male Turner Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. True Hermaphroditism is a very rare genetic disorder in which an infant is born with the internal reproductive organs (female ovaries and male testes) of both sexes. The external sex organs (genitalia) of an affected individual are usually a combination of male and female. Symptoms Hermaphroditism is characterized by the presence of both ovaries and testes in the same individual. Each reproductive organ usually contains its corresponding egg (from the ovary) or sperm cell (from the testes). Most affected people have a mixture of female and male external genitalia. Approximately 15% of Hermaphrodites have a normal penis, and 5% have normal female genitalia. The combination of internal reproductive organs most commonly present in Hermaphroditism is an ovary and a testis. A mutation resulting in the development of an ovary and a testis into one single organ (an ovotestis) is also common, and usually occurs along with a normal ovary. When a normal ovary or an ovotestis is present, the fallopian tube (through which an egg moves from the ovary to the uterus) is nearly always situated next to it. A uterus is present in nearly 90% of reported cases. The epididymis tube (through which the sperm cells move from the testis to ejaculation) is present in approximately one-third of affected individuals. If a penis is present, it may show an abnormality in which the canal (urethra) that carries urine from the bladder opens on the underside (hypospadias). When testes are present, they are usually undescended (cryptochidism). Upon reaching puberty, approximately one-half of children with Hermaphroditism, who have not had sexual reassignment surgery, will menstruate. A child born with a penis and raised as a male may experience menstruation as cyclic periods of blood in the urine (hematuria). Development of the breasts (gynecomastia) occurs in approximately 80% of affected males. Pregnancy and childbirth have been reported in individuals with Hermaphroditism following surgical removal of the testes and correction of the external genitalia. Individuals with testicular tissue may have fertile sperm. Tumors of the ovaries or testes are present in approximately 2% of reported cases. Causes The exact cause of Hermaphroditism is not known. It is often a genetic disorder inherited as an autosomal recessive trait. However cases have been reported in which Hermaphroditism has been inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Individuals with Hermaphroditism are born with the correct number of chromosomes (46), but show abnormalities of their sex chromosomes. Approximately two-thirds of affected subjects have XX chromosomes which normally result in female sexual development. (A combination of XY chromosomes normally produces male sexual development.) Some scientists believe that in Hermaphroditism, genetic material from a Y chromosome may have been translocated to either an X chromosome or to a chromosome which does not normally determine sex (autosome). Other scientists believe that abnormalities of sexual development may arise from disturbances in the secretion or functioning of hormones during the first three months of fetal development. Affected Population Hermaphroditism is a very rare genetic disorder. Individuals with Hermaphroditism in their families are at greater risk of having the disorder and of passing it on to their offspring. Related Disorders Symptoms of the following disorders can be similar to those of Hermaphroditism. Comparisons may be useful for a differential diagnosis: Klinefelter Syndrome is a disorder resulting from an excess of X chromosomes. It is characterized in males by small testes, lack of sperm, enlarged mammary glands and an abnormally small penis. Other symptoms include retarded development of sex organs, an absence of beard and body hair, a high pitched voice and lack of muscular development. (For more information on this disorder, choose "Klinefelter" as your search term in the Rare Disease Database). Female Pseudohermaphroditism is a genetic disorder in which a female embryo may be exposed to excessive amounts of male hormones while in the uterus, and/or overproduces male hormones after birth. The internal female reproductive glands are usually normal while the external genitalia are male, or a combination of male and female. The clitoris may be enlarged and there may be one common outlet for the urethra and vagina. Other symptoms may include absence of breast development, excessive growth of hair in abnormal areas (hirsutism), increased muscularity, absent or irregular menstruation (amenorrhea), obesity, a short and thick neck, protruding abdomen and thin arms and legs. Female Pseudohermaphroditism is usually caused by the inheritance of a mutant gene which leads to the overproduction of the male hormone androgen. Male Pseudohermaphroditism is a genetic disorder characterized by defective development of external male genitalia. The testes are usually normal. However, other external genitalia may be female. The body type is usually feminine. Turner Syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possible mental retardation, a webbed neck, heart defects, and various other congenital abnormalities. Individuals with Turner's Syndrome have an XO karyotype, (i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males). Despite the unusual genetic karotype, people with Turner Syndrome are females. (For more information on this disorder, choose "Turner" as your search term in the Rare Disease Database.) Therapies: Standard To avoid gender confusion later in life, individuals with Hermaphroditism should be assigned a sexual identity as quickly as possible. Assignment of sex appropriate to the individual is most important, and is best determined by the appearance of the external genitalia, the formation of the internal reproductive glands and the ease in which genital reconstruction can be carried out along one sexual line or another. Corrective surgery is usually begun in the early years. The timing of the surgical reconstruction varies. A clitoral resection on sex assigned females is usually completed as early as possible to facilitate sexual identification. Vaginal reconstruction is usually delayed until puberty to avoid the high incidence of constriction of the vagina (stenosis) which occurs when surgery is performed too early in life. In sex assigned males, the common abnormality of the penis in which the urethra opens on the underside (hypospadias), is usually surgically corrected at two to three years of age. In cases where a combined ovary and testis (ovotestis) and a uterus are present, the ovotestis and any male internal structures are usually removed and feminizing surgery of the external genitalia is performed. If two ovotestes are present and there is a clear line of demarcation between the two types of tissue, the testicular portion is usually removed and the external genitalia surgically feminized. In both cases, the child is raised as female. If a testis is present on one side and an ovotestis on the other, the testis is usually brought into the scrotum. If the external genitalia can be surgically reconstructed, the child is then raised as male. Approximately 75% of individuals with Hermaphroditism have been reconstructed as males. If an ovary is present on one side and a testis on the other, sex assignment is usually decided by evaluation of the appearance of the external and internal sex structures. Appropriate surgical correction is then performed. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on True Hermaphroditism, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Hermaphrodite Association for Rehabilitative Transition P.O. Box 1303 High Springs, FL 32643 Dr. John Mahoney, Professor, Pediatrics and Psychology Johns Hopkins University 600 N. Wolfe St. Baltimore, MD 21205 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 984-985. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1962-1963. EARLY GENDER ASSIGNMENT IN TRUE HERMAPHRODITISM. F.I. Luks et al.; J PEDIATR SURG (December, 1988: issue 23 (12)). Pp. 1122-1126. TRUE HERMAPHRODITISM: DIAGNOSIS AND SURGICAL TREATMENT. S. Guaschino et al.; CLIN EXP OBSTET GYNECOL (1988: issue 15 (3)). Pp. 74-79. TRUE HERMAPHRODITISM WITH BILATERAL OVOTESTIS: A CASE REPORT. M. Bergmann et al.; INT J ANDROL (April, 1989: issue 12 (2)). Pp. 139-147.