Pseudohermaphroditism
   HOME

TheInfoList



OR:

Pseudohermaphroditism is an outdated term for when an individual's gonads were mismatched with their internal reproductive system and/or external genitalia. The term was contrasted with "
true hermaphroditism Ovotesticular syndrome (also known as ovotesticular disorder or OT-DSD) is a rare congenital condition where an individual is born with both ovarian and testicular tissue. It is one of the rarest disorders of sex development (DSDs), with only 50 ...
" (now known as
ovotesticular syndrome Ovotesticular syndrome (also known as ovotesticular disorder or OT-DSD) is a rare congenital condition where an individual is born with both ovarian and testicular tissue. It is one of the rarest disorders of sex development (DSDs), with only 50 ...
), a condition describing an individual with both female and male reproductive gonadal tissues. Associated conditions includes
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. In humans, ...
and forms of
androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY (karyotype, karyotypically male) births. The condition result ...
.


Mechanism

Sexual development 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 in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining chromosome because the presence of the ...
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 insensitivity syndrome Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY (karyotype, karyotypically male) births. The condition result ...
.
Androgen An androgen (from Greek ''andr-'', the stem of the word meaning ) is any natural or synthetic steroid hormone that regulates the development and maintenance of male characteristics in vertebrates by binding to androgen receptors. This includes ...
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 In most terrestrial mammals, the scrotum (: scrotums or scrota; possibly from Latin ''scortum'', meaning "hide" or "skin") or scrotal sac is a part of the external male genitalia located at the base of the penis. It consists of a sac of skin ...
. Female pseudohermaphroditism refers to an individual with ovaries and external genitalia resembling those of a male. Male pseudohermaphroditism refers to an individual with testicles and external genitalia resembling those of a female. In some cases, external
sex organs A sex organ, also known as a reproductive organ, is a part of an organism that is involved in sexual reproduction. Sex organs constitute the primary sex characteristics of an organism. Sex organs are responsible for producing and transporting ...
associated with pseudohermaphroditism appear intermediate between a typical
clitoris In amniotes, the clitoris ( or ; : clitorises or clitorides) is a female sex organ. In humans, it is the vulva's most erogenous zone, erogenous area and generally the primary anatomical source of female Human sexuality, sexual pleasure. Th ...
and
penis A penis (; : penises or penes) is a sex organ through which male and hermaphrodite animals expel semen during copulation (zoology), copulation, and through which male placental mammals and marsupials also Urination, urinate. The term ''pen ...
. 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 female, the testicles i ...
or adulthood.
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. In humans, ...
was considered 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 American psychologist, sexologist and professor at Johns Hopkins University known for his research on human sexual behavior and gender. Money advanced the use of more accur ...
is perhaps the best-known early researcher in this area. His
doctoral A doctorate (from Latin ''doctor'', meaning "teacher") or doctoral degree is a postgraduate academic degree awarded by universities and some other educational institutions, derived from the ancient formalism '' licentia docendi'' ("licence to teach ...
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: D ...
was titled ''Hermaphroditism: An Inquiry into the Nature of a Human Paradox'', and awarded by
Harvard University Harvard University is a Private university, private Ivy League research university in Cambridge, Massachusetts, United States. Founded in 1636 and named for its first benefactor, the History of the Puritans in North America, Puritan clergyma ...
in 1952.


Other animals

Narave pig The Narave or Naravé pig is a type of domestic pig native to northern Vanuatu. Narave pigs are pseudohermaphrodite (intersex) male individuals that are kept for ceremonial purposes. Etymology The term ''narave'' is from Bislama, with the common ...
s, which are native to Malo Island,
Vanuatu Vanuatu ( or ; ), officially the Republic of Vanuatu (; ), is an island country in Melanesia located in the South Pacific Ocean. The archipelago, which is of volcanic origin, is east of northern Australia, northeast of New Caledonia, east o ...
, are pseudohermaphrodite male domestic pigs that are kept for ceremonial purposes.


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 Pas ...
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 terms, indicating replacement with "disorders of sex development", "disorders of sexual development", "differences of sex development" (all abbreviated as DSD) or "
intersex Intersex people are those 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 binar ...
". 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".


See also

* (DoDI) 6130.03, 2018, section 5, 13f and 14m *
Disorders of sex development Disorders of sex development (DSDs), also known as differences in sex development, variations in sex characteristics (VSC), sexual anomalies, or sexual abnormalities, are congenital conditions affecting the reproductive system, in which developme ...
*
Intersex medical interventions Intersex medical interventions (IMI), sometimes known as intersex genital mutilations (IGM), are surgery, surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primar ...
* Diophantus of Abae *
Callon of Epidaurus Callon (born Callo; fl. 2nd century BC) was an intersex person, whose medical treatment is the first recorded example of gender affirmation surgery. His life is known from the works of Diodorus Siculus. Biography Callon was born in Epidaurus in ...
*
Complete Androgen Insensitivity Syndrome Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such, the insensitivity to androgens is only clinically significant when it occurs in individual ...
*
Narave pig The Narave or Naravé pig is a type of domestic pig native to northern Vanuatu. Narave pigs are pseudohermaphrodite (intersex) male individuals that are kept for ceremonial purposes. Etymology The term ''narave'' is from Bislama, with the common ...


References


External links

{{Congenital malformations of genital organs Congenital disorders of genital organs Intersex variations