Pseudohermaphroditism
Encyclopedia
Pseudohermaphroditism, or pseudo-hermaphroditism, is the condition in which an organism is born with secondary sex characteristic
s or a phenotype
that is different from what would be expected on the basis of the gonad
al tissue (ovary
or testis).
In some cases, the external sex organs look intermediate between the typical clitoris
or penis
. In other cases, the external sex organs have an appearance that does not look intermediate, but rather has the appearance that would be expected to be seen with the "opposite" gonadal tissue. Because of this, pseudohermaphroditism is sometimes not identified until puberty
.
It is possible for the condition to be undetected until adulthood.
The term "male pseudohermaphrodite" is used when a testis is present, and the term "female pseudohermaphrodite" is used when an ovary is present. The term "true" hermaphrodite
is reserved for the very rare cases where both ovarian and testicular tissue is present. (Whether or not that term would be appropriate when ovotestes
are found, or only when distinct ovaries and testes are found, is not well defined.)
Associated conditions in males include 5-α-reductase deficiency
from a deficiency in the male chromosome (46 XY
).
in 1876, long before the genetic roles of the X chromosome
and Y chromosome
and the social components of gender identity
were well characterized, which is why the term is usually used to describe the dissonance between gonadal histology and external genital appearance.
The term "intersexuality" was introduced by Richard Goldschmidt
in 1923. However, the term "intersex" has also been challenged; the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology have adopted a nomenclature system based on disorders of sex development
, which covers "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical" and thus replaces many disparate terms, including but not limited to those based on "hermaphrodite."
One example of the challenges involved in the use of the term is the case of women with Complete Androgen Insensitivity Syndrome
(CAIS). These women often have primary and secondary sexual characteristics typical of other women; however, they are genetically XY and have internal testes, rather than ovaries. They have the same likelihood of a genetically XX woman of enjoying sexual pleasure but are unable to biologically reproduce. Their sexuality (homosexual, heterosexual, bisexual etc.) is unrelated to this syndrome. However scientifically precise the description "male" pseudohermaphrodite may be for such women, it is clearly socially inappropriate. CAIS is considered little better by some, as the S for syndrome
in CAIS does not accord with the "normality" many CAIS women feel about their bodies.
In human beings, the sex status is defined at four levels: chromosomal
(XY; XX
), internal organs (ovaries; testicles), external organs (breasts, vulva + vagina; penis), and psyche (sexual identity). In a XX human the default development process results in a female. In a XY human a set of genes on the Y chromosome trigger a cascade of events resulting, "if all goes well", in a male. A complete female or male developmental process entails the expression of female and male sex hormones, respectively, and of their corresponding receptors in the target tissues. Without these hormones and their receptors, the internal and external sex organs, and psyche, will not develop as expected. Sex hormones, their receptors, and downstream signal transduction
proteins are coded by genes that may be genetically defective.
All these factors mean that genetic mutations can block the sexual development process at three stages: (a) before the development of the internal sex organs; (b) after the development of the internal sex organs but before the development of external sex organs; and (c) after the development of external sex organs but before the maturation of the sexual component of the psyche.
While in (a) the XY human will be indistinguishable anatomically and psychologically from a female; in (b) the individual may either be born with ambiguous external genitals or have genitals apparently in the normal range at birth but, at pubertal age, not develop secondary sexual characteristics at all or develop secondary sexual characteristics that do not match the external genitals; and in (c) the individual will be transgender
ed (formerly referred to as transsexual).
There are other intersexual states that are not the result of the genetic configurations above.
In particular, where either the individual is a genetic mosaic
(resulting from a fusion of two distinct embryo
s, one male and one female, during fetal development), or the individual contains duplicated chromosomes in the genome (XXY
; XXXY). In the former case some tissues will be in the XX and others in the XY configuration; in the latter, all cells contain the Y chromosome and may or may not use it. This is a gynandromorph
, which has both female and male characteristics at all four levels and may have either ambiguous sex organs (the XY/XX configuration may not be evenly distributed throughout the body) or unambiguous male and female sex organs (hermaphrodite).
is perhaps the best-known early researcher in this area. His doctoral
thesis
was titled Hermaphroditism: An Inquiry into the Nature of a Human Paradox, and awarded by Harvard University
in 1952.
Money's general views on gender identity as something learned during childhood were later directly contradicted by a biography published in 2001 by one of his former patients, David Reimer
. Among the repercussions was damage to John Money's reputation. Not only had his theory of gender plasticity been dealt a severe blow but Reimer's biography described bizarrely unpleasant childhood therapy sessions, and implied that Money had ignored or concealed the developing evidence that Reimer's reassignment to female was not going well. Money's defenders have suggested that some of the allegations about the therapy sessions may have been the result of False memory syndrome. However, Reimer's brother and mother both agreed that the therapy was not "working" in the sense that Reimer wasn't in any way developing a female self-image during his treatment with Dr. Money. Dr. Money never publicly stated that his conclusions were incorrect.
Milton Diamond
has probably become the best known expert public advocate for the intersex community in the early 21st century. He is the director of the Pacific Center for Sex and Society.
Secondary sex characteristic
Secondary sex characteristics are features that distinguish the two sexes of a species, but that are not directly part of the reproductive system. They are believed to be the product of sexual selection for traits which give an individual an advantage over its rivals in courtship and aggressive...
s or a phenotype
Phenotype
A phenotype is an organism's observable characteristics or traits: such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior...
that is different from what would be expected on the basis of the gonad
Gonad
The gonad is the organ that makes gametes. The gonads in males are the testes and the gonads in females are the ovaries. The product, gametes, are haploid germ cells. For example, spermatozoon and egg cells are gametes...
al tissue (ovary
Ovary
The ovary is an ovum-producing reproductive organ, often found in pairs as part of the vertebrate female reproductive system. Ovaries in anatomically female individuals are analogous to testes in anatomically male individuals, in that they are both gonads and endocrine glands.-Human anatomy:Ovaries...
or testis).
In some cases, the external sex organs look intermediate between the typical clitoris
Clitoris
The clitoris is a sexual organ that is present only in female mammals. In humans, the visible button-like portion is located near the anterior junction of the labia minora, above the opening of the urethra and vagina. Unlike the penis, which is homologous to the clitoris, the clitoris does not...
or penis
Penis
The penis is a biological feature of male animals including both vertebrates and invertebrates...
. In other cases, the external sex organs have an appearance that does not look intermediate, but rather has the appearance that would be expected to be seen with the "opposite" gonadal tissue. Because of this, pseudohermaphroditism is sometimes not identified until puberty
Puberty
Puberty is the process of physical changes by which a child's body matures into an adult body capable of reproduction, as initiated by hormonal signals from the brain to the gonads; the ovaries in a girl, the testes in a boy...
.
It is possible for the condition to be undetected until adulthood.
The term "male pseudohermaphrodite" is used when a testis is present, and the term "female pseudohermaphrodite" is used when an ovary is present. The term "true" hermaphrodite
Hermaphrodite
In biology, a hermaphrodite is an organism that has reproductive organs normally associated with both male and female sexes.Many taxonomic groups of animals do not have separate sexes. In these groups, hermaphroditism is a normal condition, enabling a form of sexual reproduction in which both...
is reserved for the very rare cases where both ovarian and testicular tissue is present. (Whether or not that term would be appropriate when ovotestes
Ovotestis
An ovotestis is a gonad with both testicular and ovarian aspects. In humans, ovotestes are an anatomical abnormality associated with gonadal dysgenesis.- In gastropods :...
are found, or only when distinct ovaries and testes are found, is not well defined.)
Associated conditions in males include 5-α-reductase deficiency
5-alpha-reductase deficiency
5-Alpha-reductase deficiency is an autosomal recessive intersex condition caused by a mutation of the 5-alpha reductase type 2 gene.-Normal function:...
from a deficiency in the male chromosome (46 XY
Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of an eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism.p28...
).
Terminology
Use of the term "pseudohermaphroditism" can be problematic, and is now considered redundant. The term "pseudohermaphroditism" was created by Edwin KlebsEdwin Klebs
Theodor Albrecht Edwin Klebs was a German-Swiss pathologist. He is mainly known for his work on infectious diseases. He is the father of Arnold Klebs.-Life:...
in 1876, long before the genetic roles of the X chromosome
X chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
and Y chromosome
Y chromosome
The Y chromosome is one of the two sex-determining chromosomes in most mammals, including humans. In mammals, it contains the gene SRY, which triggers testis development if present. The human Y chromosome is composed of about 60 million base pairs...
and the social components of gender identity
Gender identity
A gender identity is the way in which an individual self-identifies with a gender category, for example, as being either a man or a woman, or in some cases being neither, which can be distinct from biological sex. Basic gender identity is usually formed by age three and is extremely difficult to...
were well characterized, which is why the term is usually used to describe the dissonance between gonadal histology and external genital appearance.
The term "intersexuality" was introduced by Richard Goldschmidt
Richard Goldschmidt
Richard Benedict Goldschmidt was a German-born American geneticist. He is considered the first to integrate genetics, development, and evolution. He pioneered understanding of reaction norms, genetic assimilation, dynamical genetics, sex determination, and heterochrony...
in 1923. However, the term "intersex" has also been challenged; the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology have adopted a nomenclature system based on disorders of sex development
Disorders of sex development
Disorders of sex development , sometimes referred to as disorders of sex differentiation, are medical terms referring to "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical." Lee et al...
, which covers "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical" and thus replaces many disparate terms, including but not limited to those based on "hermaphrodite."
One example of the challenges involved in the use of the term is the case of women with Complete Androgen Insensitivity Syndrome
Androgen insensitivity syndrome
Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...
(CAIS). These women often have primary and secondary sexual characteristics typical of other women; however, they are genetically XY and have internal testes, rather than ovaries. They have the same likelihood of a genetically XX woman of enjoying sexual pleasure but are unable to biologically reproduce. Their sexuality (homosexual, heterosexual, bisexual etc.) is unrelated to this syndrome. However scientifically precise the description "male" pseudohermaphrodite may be for such women, it is clearly socially inappropriate. CAIS is considered little better by some, as the S for syndrome
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
in CAIS does not accord with the "normality" many CAIS women feel about their bodies.
In human beings, the sex status is defined at four levels: chromosomal
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
(XY; XX
XY sex-determination system
The XY sex-determination system is the sex-determination system found in humans, most other mammals, some insects and some plants . In this system, females have two of the same kind of sex chromosome , and are called the homogametic sex. Males have two distinct sex chromosomes , and are called...
), internal organs (ovaries; testicles), external organs (breasts, vulva + vagina; penis), and psyche (sexual identity). In a XX human the default development process results in a female. In a XY human a set of genes on the Y chromosome trigger a cascade of events resulting, "if all goes well", in a male. A complete female or male developmental process entails the expression of female and male sex hormones, respectively, and of their corresponding receptors in the target tissues. Without these hormones and their receptors, the internal and external sex organs, and psyche, will not develop as expected. Sex hormones, their receptors, and downstream signal transduction
Signal transduction
Signal transduction occurs when an extracellular signaling molecule activates a cell surface receptor. In turn, this receptor alters intracellular molecules creating a response...
proteins are coded by genes that may be genetically defective.
All these factors mean that genetic mutations can block the sexual development process at three stages: (a) before the development of the internal sex organs; (b) after the development of the internal sex organs but before the development of external sex organs; and (c) after the development of external sex organs but before the maturation of the sexual component of the psyche.
While in (a) the XY human will be indistinguishable anatomically and psychologically from a female; in (b) the individual may either be born with ambiguous external genitals or have genitals apparently in the normal range at birth but, at pubertal age, not develop secondary sexual characteristics at all or develop secondary sexual characteristics that do not match the external genitals; and in (c) the individual will be transgender
Transgender
Transgender is a general term applied to a variety of individuals, behaviors, and groups involving tendencies to vary from culturally conventional gender roles....
ed (formerly referred to as transsexual).
There are other intersexual states that are not the result of the genetic configurations above.
In particular, where either the individual is a genetic mosaic
Mosaic (genetics)
In genetic medicine, a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one individual who has developed from a single fertilized egg...
(resulting from a fusion of two distinct embryo
Embryo
An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination...
s, one male and one female, during fetal development), or the individual contains duplicated chromosomes in the genome (XXY
Klinefelter's syndrome
Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...
; XXXY). In the former case some tissues will be in the XX and others in the XY configuration; in the latter, all cells contain the Y chromosome and may or may not use it. This is a gynandromorph
Gynandromorph
A gynandromorph is an organism that contains both male and female characteristics. The term gynandromorph, from Greek "gyne" female and "andro" male, is mainly used in the field of Lepidopterology or entomology...
, which has both female and male characteristics at all four levels and may have either ambiguous sex organs (the XY/XX configuration may not be evenly distributed throughout the body) or unambiguous male and female sex organs (hermaphrodite).
History
John MoneyJohn Money
John William Money was a psychologist, sexologist and author, specializing in research into sexual identity and biology of gender...
is perhaps the best-known early researcher in this area. His doctoral
Doctor of Philosophy
Doctor of Philosophy, abbreviated as Ph.D., PhD, D.Phil., or DPhil , in English-speaking countries, is a postgraduate academic degree awarded by universities...
thesis
Thesis
A dissertation or thesis is a document submitted in support of candidature for an academic degree or professional qualification presenting the author's research and findings...
was titled Hermaphroditism: An Inquiry into the Nature of a Human Paradox, and awarded by Harvard University
Harvard University
Harvard University is a private Ivy League university located in Cambridge, Massachusetts, United States, established in 1636 by the Massachusetts legislature. Harvard is the oldest institution of higher learning in the United States and the first corporation chartered in the country...
in 1952.
Money's general views on gender identity as something learned during childhood were later directly contradicted by a biography published in 2001 by one of his former patients, David Reimer
David Reimer
David Reimer was a Canadian man who was born as a healthy male, but was sexually reassigned and raised as female after his penis was accidentally destroyed during circumcision. Psychologist John Money oversaw the case and reported the reassignment as successful, and as evidence that gender...
. Among the repercussions was damage to John Money's reputation. Not only had his theory of gender plasticity been dealt a severe blow but Reimer's biography described bizarrely unpleasant childhood therapy sessions, and implied that Money had ignored or concealed the developing evidence that Reimer's reassignment to female was not going well. Money's defenders have suggested that some of the allegations about the therapy sessions may have been the result of False memory syndrome. However, Reimer's brother and mother both agreed that the therapy was not "working" in the sense that Reimer wasn't in any way developing a female self-image during his treatment with Dr. Money. Dr. Money never publicly stated that his conclusions were incorrect.
Milton Diamond
Milton Diamond
Milton Diamond is a retired professor of anatomy and reproductive biology at the University of Hawai'i at Mānoa. He has had a very long and productive career in the study of human sexuality...
has probably become the best known expert public advocate for the intersex community in the early 21st century. He is the director of the Pacific Center for Sex and Society.