CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0381/03817.txt

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$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
     [phone]

     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
     [phone]

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

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.