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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 only ovaries and/or fully internal reproductive organs and external genitalia resembling those of an entirely male to ambiguous. Male pseudohermaphroditism refers to an individual with internal testicles and external genitalia resembling those of a entirely female to ambiguous.[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]
Surgery is sometimes performed to alter the appearance of the genitals. Sex-specific cancers present on the gonads may require surgical removal.[7][8][9][10]
John Money is perhaps the best-known early researcher in this area. His doctoralthesis was titled Hermaphroditism: An Inquiry into the Nature of a Human Paradox, and awarded by Harvard University in 1952.[11]
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]
↑ Michiels I, Peperstraete L, De Wever I, Gruwez JA (July 1984). "Inguinal hernia repair leading to the diagnosis of internal male pseudohermaphroditism". Acta Chirurgica Belgica. 84 (4): 255–258. PMID6485686.
↑ Quattrin T, Aronica S, Mazur T (December 1990). "Management of male pseudohermaphroditism: a case report spanning twenty-one years". Journal of Pediatric Psychology. 15 (6): 699–709. doi:10.1093/jpepsy/15.6.699. PMID2283575.
↑ Amato V (2016). Intersex Narratives: Shifts in the Representation of Intersex Lives in North American Literature and Popular Culture. Bielefeld: Transcript Verlag. ISBN978-3-8394-3419-2.[pageneeded]
↑ Reis, Elizabeth (September 2007). "Divergence or Disorder?: the politics of naming intersex". Perspectives in Biology and Medicine. 50 (4): 535–543. doi:10.1353/pbm.2007.0054. PMID17951887.
1 2 3 Hughes IA (February 2008). "Disorders of sex development: a new definition and classification". Best Practice & Research. Clinical Endocrinology & Metabolism. 22 (1): 119–134. doi:10.1016/j.beem.2007.11.001. PMID18279784.
1 2 Houk CP, Hughes IA, Ahmed SF, Lee PA (August 2006). "Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference". Pediatrics. 118 (2): 753–757. doi:10.1542/peds.2006-0737. PMID16882833. S2CID46508895.
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