Pseudohermaphroditism is a condition in which an individual has a matching chromosomal and

gonad A gonad, sex gland, or reproductive gland is a mixed gland that produces the gametes and sex hormones of an organism. Female reproductive cells are egg cells, and male reproductive cells are sperm. The male gonad, the testicle, produces sp ...

al tissue (

ovary The ovary is an organ in the female reproductive system that produces an ovum. When released, this travels down the fallopian tube into the uterus, where it may become fertilized by a sperm. There is an ovary () found on each side of the body. ...

testis A testicle or testis (plural testes) is the male reproductive gland or gonad in all bilaterians, including humans. It is homologous to the female ovary. The functions of the testes are to produce both sperm and androgens, primarily testostero ...

) sex, but mismatching external genitalia. Female pseudohermaphroditism refers to an individual with ovaries and external genitalia resembling those of a male. Male pseudohermaphroditism refers to an individual with testes and external genitalia resembling those of a female. In some cases, external

sex organs A sex organ (or reproductive organ) is any part of an animal or plant that is involved in sexual reproduction. The reproductive organs together constitute the reproductive system. In animals, the testis in the male, and the ovary in the female, ...

associated with pseudohermaphroditism appear intermediate between a typical clitoris and

penis A penis (plural ''penises'' or ''penes'' () is the primary sexual organ that male animals use to inseminate females (or hermaphrodites) during copulation. Such organs occur in many animals, both vertebrate and invertebrate, but males d ...

. Thus, pseudohermaphroditism is sometimes not identified until

puberty Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction. It is initiated by hormonal signals from the brain to the gonads: the ovaries in a girl, the testes in a bo ...

or adulthood. The term contrasts with

true hermaphroditism True hermaphroditism, sometimes referred to as ovotesticular syndrome, is an intersex condition in which an individual is born with both ovarian and testicular tissue. Commonly, one or both gonads is an ovotestis containing both types of tis ...

, a condition describing an individual with both female and male reproductive organs. Associated conditions include 5-α-reductase deficiency and

androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY ( karyotypically male) births. The condition results in the partial ...

Mechanism

Sex is determined by chromosomes during fertilization. In the early stages of human development, a human embryo has the precursors of female (paramesonephric or Müllerian ducts) and male (mesonephric ducts or Wolffian) gonads. If a

Y chromosome The Y chromosome is one of two sex chromosomes (allosomes) in therian mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or abse ...

is lacking, or defective as seen in Swyer syndrome, the embryo will reabsorb the mesonephric ducts and proceed with paramesonephric ducts, which give rise to ovaries. The Y chromosome contains a sex-determining region called the ''SRY'' gene. Thus, the developmental plan of the embryo is altered only if this gene is present and functional. Mutations affecting the androgen receptor (AR) gene may cause either complete or partial

Androgen An androgen (from Greek ''andr-'', the stem of the word meaning "man") is any natural or synthetic steroid hormone that regulates the development and maintenance of male characteristics in vertebrates by binding to androgen receptors. This in ...

s are a group of hormones which regulate the development and maintenance of male characteristics. Between 8 and 12 weeks, human male fetuses become externally distinct as androgens enlarge the phallus and produce a penis with a urethra and

scrotum The scrotum or scrotal sac is an anatomical male reproductive structure located at the base of the penis that consists of a suspended dual-chambered sac of skin and smooth muscle. It is present in most terrestrial male mammals. The scrotum co ...

Persistent Müllerian duct syndrome Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives ( fallopian tubes, uterus, and/or the upper part of the vagina) in what would be considered a genetically and otherwise physically normal male animal by typ ...

is a form of pseudohermaphroditism, developed through Müllerian-inhibiting factor defects. In such instances, duct derivatives are present in males, including the uterus, fallopian tubes, and upper vagina.

Management

Surgery is sometimes performed to alter the appearance of the genitals. Sex-specific cancers present on the gonads may require surgical removal.

History

John Money John William Money (8 July 1921 – 7 July 2006) was a New Zealand psychologist, sexologist and author known for his research into sexual identity and Sex determination and differentiation (human), biology of gender. He was one of the first ...

is perhaps the best-known early researcher in this area. His doctoral

thesis A thesis ( : theses), or dissertation (abbreviated diss.), is a document submitted in support of candidature for an academic degree or professional qualification presenting the author's research and findings.International Standard ISO 7144: ...

was titled ''Hermaphroditism: An Inquiry into the Nature of a Human Paradox'', and awarded by

Harvard University Harvard University is a private Ivy League research university in Cambridge, Massachusetts. Founded in 1636 as Harvard College and named for its first benefactor, the Puritan clergyman John Harvard, it is the oldest institution of high ...

in 1952.

Terminology

The term "Pseudohermaphroditimus" (pseudohermaphroditism) was coined in German by

Edwin Klebs Theodor Albrecht Edwin Klebs (6 February 1834 – 23 October 1913) was a German-Swiss microbiologist. He is mainly known for his work on infectious diseases. His works paved the way for the beginning of modern bacteriology, and inspired Louis ...

in 1876.Klebs, T. A. E. (1876). Handbuch der pathologischen Anatomie andbook of pathological anatomy Berlin: A. Hirschwald, p. 723

/ref> Klebs had included the term as a synonym for the earlier coined, "spurious hermaphroditism" (which he referred to as ''Schein-Zwitter'' in German). "Spurious hermaphroditism" was coined in 1836 by J. Y. Simpson.Simpson, J. Y. (1836). "Hermaphroditism" in ''The Cyclopaedia of Anatomy and Physiology''. Vol. 2. p. 685

/ref> Although "pseudohermaphroditism" persisted in the International Classification of Diseases, Versions 9 (ICD-9) and 10 (ICD-10) as 752.7 (Indeterminate sex and pseudohermaphroditism) and Q56 (Interdeterminate sex and pseudohermaphroditism), it has since been removed in the eleventh version (ICD-11), in favor of LD2A.Y (Other specified malformative disorders of sex development). Some experts have indicated that both pseudohermaphroditism (also called false hermaphroditism) and true hermaphroditism are outdated, confusing, and potentially pejorative, indicating replacement with "disorders of sex development", "disorders of sexual development", "differences of sex development" (all abbreviated as DSD) or "

intersex Intersex people are individuals born with any of several sex characteristics including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical bin ...

". Additionally, intersex activists have noted that: "The qualifiers 'pseudo' and 'true' are even more harmful han hermaphrodite on its own because they imply a sort of authenticity, or lack of same, that carry powerful emotional baggage". Dreger et al had also noted that "division of many intersex types into true hermaphroditism, male pseudohermaphroditism, and female pseudohermaphroditism is scientifically specious and clinically problematic".

References

External links