Pseudohermaphroditism
Medical condition
From Wikipedia, the free encyclopedia
Pseudohermaphroditism is a 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" (now known as ovotesticular syndrome), a condition describing an individual with both female and male reproductive gonadal tissues. Associated conditions includes Persistent Müllerian duct syndrome and forms of androgen insensitivity syndrome.
| Pseudohermaphroditism | |
|---|---|
| Other names | Pseudo-hermaphroditism |
| Specialty | Gynecology, endocrinology |
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.[1] If a Y chromosome 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.[2]
Mutations affecting the androgen receptor (AR) gene may cause either complete or partial androgen insensitivity syndrome. Androgens 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.[3]
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.[4][5] In some cases, external sex organs associated with pseudohermaphroditism appear intermediate between a typical clitoris and penis. Thus, pseudohermaphroditism is sometimes not identified until puberty or adulthood.
Persistent Müllerian duct syndrome 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.[6]
Management
History
John Money 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.[11]
Other animals
Narave pigs, which are native to Malo Island, Vanuatu, are pseudohermaphrodite male domestic pigs that are kept for ceremonial purposes.[12][13][14]
Terminology
The term "Pseudohermaphroditimus" (pseudohermaphroditism) was coined in German by Edwin Klebs in 1876.[15][16] Klebs had included the term as a synonym for the earlier coined, "spurious hermaphroditism" (which he referred to as Schein-Zwitter in German).[16] "Spurious hermaphroditism" was coined in 1836 by J. Y. Simpson.[17]
Although "pseudohermaphroditism" persisted in the International Classification of Diseases, Versions 9 (ICD-9) and 10 (ICD-10) as 752.7 (Indeterminate sex and pseudohermaphroditism)[18] and Q56 (Interdeterminate sex and pseudohermaphroditism),[19] it has since been removed in the eleventh version (ICD-11), in favor of LD2A.Y (Other specified malformative disorders of sex development).[20]
Some experts have indicated that both pseudohermaphroditism (also called false hermaphroditism) and true hermaphroditism are outdated,[21][22][23][24][25][26] confusing,[23][27] and potentially pejorative terms,[23][26][27][28][29] indicating replacement with "disorders of sex development", "disorders of sexual development", "differences of sex development" (all abbreviated as DSD)[21][23][26] or "intersex".[22][29]
Additionally, intersex activists have noted that: "The qualifiers 'pseudo' and 'true' are even more harmful [than hermaphrodite on its own], because they imply a sort of authenticity, or lack of same, that carry powerful emotional baggage".[30] 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".[31]