pseudohermaphroditism

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.{{cite book |last1=Wilson |first1=Danielle |last2=Bordoni |first2=Bruno |title=StatPearls |date=2024 |publisher=StatPearls Publishing |chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK557727/ |chapter=Embryology, Mullerian Ducts (Paramesonephric Ducts) |pmid=32491659 }} 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.{{Cite web|title=SRY gene: MedlinePlus Genetics|url=https://medlineplus.gov/genetics/gene/sry/|access-date=2021-07-03|website=medlineplus.gov|language=en}}

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.{{cite journal | vauthors = Celayir A, Moralioglu S, Cetiner H, Kir G, Celayir S | title = Expression of androgen, estrogen, and progesterone hormone receptors in the penile tissues of children with different types of hypospadias | journal = Northern Clinics of Istanbul | volume = 6 | issue = 2 | pages = 110–116 | year = 2019 | pmid = 31297475 | pmc = 6593914 }}

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.{{Cite web |title=Pseudohermaphroditism {{!}} pathology |url=https://www.britannica.com/science/pseudohermaphroditism |access-date=2021-07-03 |website=Encyclopedia Britannica |language=en}}{{cite journal |vauthors=Michiels I, Peperstraete L, De Wever I, Gruwez JA |date=July 1984 |title=Inguinal hernia repair leading to the diagnosis of internal male pseudohermaphroditism |journal=Acta Chirurgica Belgica |volume=84 |issue=4 |pages=255–258 |pmid=6485686}} 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.{{cite journal | vauthors = Patil V, Muktinaini S, Patil R, Verma A | title = Persistent müllerian duct syndrome: a case report | journal = The Indian Journal of Surgery | volume = 75 | issue = Suppl 1 | pages = 460–462 | date = June 2013 | pmid = 24426648 | pmc = 3693295 | doi = 10.1007/s12262-013-0831-6 }}

{{main|Intersex medical interventions|}}

Surgery is sometimes performed to alter the appearance of the genitals. Sex-specific cancers present on the gonads may require surgical removal.{{cite journal |last1=Boyd |first1=Theonia K. |title=Disorders of Sexual Differentiation |journal=Surgical Pathology Clinics |date=September 2010 |volume=3 |issue=3 |pages=553–601 |doi=10.1016/j.path.2010.06.003 |pmid=26839224 }}{{cite journal | vauthors = Quattrin T, Aronica S, Mazur T | title = Management of male pseudohermaphroditism: a case report spanning twenty-one years | journal = Journal of Pediatric Psychology | volume = 15 | issue = 6 | pages = 699–709 | date = December 1990 | pmid = 2283575 | doi = 10.1093/jpepsy/15.6.699 }}{{cite journal | vauthors = Hughes IA, Williams DM, Batch JA, Patterson MN | title = Male pseudohermaphroditism: clinical management, diagnosis and treatment | journal = Hormone Research | volume = 38 | issue = 2 | pages = 77–81 | date = 1992 | pmid = 1292987 | doi = 10.1159/000182604 }}{{cite book |doi=10.1016/B978-0-12-380102-9.50019-6 |chapter=Management and Treatment of Male Pseudohermaphrodites |title=The Endocrine Function of the Human Testis |date=1974 |last1=Boczkowski |first1=Krzysztof |pages=247–256 |isbn=978-0-12-380102-9 }}

{{main|Intersex in history|History of intersex surgery}}

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.{{cite thesis | vauthors = Money JW |author-link = John Money |year=1952 |title=Hermaphroditism: An inquiry into the nature of a human paradox |degree = PhD |publisher=Harvard University |oclc=81648824}}{{page needed|date=May 2014}}

Narave pigs, which are native to Malo Island, Vanuatu, are pseudohermaphrodite male domestic pigs that are kept for ceremonial purposes.{{cite journal | vauthors = Lum JK, McIntyre JK, Greger DL, Huffman KW, Vilar MG | title = Recent Southeast Asian domestication and Lapita dispersal of sacred male pseudohermaphroditic "tuskers" and hairless pigs of Vanuatu | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 103 | issue = 46 | pages = 17190–17195 | date = November 2006 | pmid = 17088556 | pmc = 1859908 | doi = 10.1073/pnas.0608220103 | bibcode = 2006PNAS..10317190L | doi-access = free }}{{Cite web|url=http://www.swprp.org/intersexual-pigs|title=Intersex Pigs|work=Southwest Pacific Research Project|access-date=2023-03-07}}{{Cite web|url=https://www.psu.edu/news/research/story/pigs-paradise/|title=Pigs in Paradise|work=Penn State University|access-date=2023-03-07}}

The term "Pseudohermaphroditimus" (pseudohermaphroditism) was coined in German by Edwin Klebs in 1876.{{cite journal | vauthors = Zucker KJ | title = Intersexuality and gender identity differentiation | journal = Annual Review of Sex Research | volume = 10 | pages = 1–69 | year = 1999 | pmid = 10895247 | doi = 10.1080/10532528.1999.10559774 | hdl = 10818/19666 | hdl-access = free }}Klebs, T. A. E. (1876). Handbuch der pathologischen Anatomie [Handbook of pathological anatomy]. Berlin: A. Hirschwald, p. 723. [https://books.google.com/books?id=MAA1AQAAMAAJ&q=Schein] 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. [https://www.biodiversitylibrary.org/item/70173#page/699/mode/1up]

Although "pseudohermaphroditism" persisted in the International Classification of Diseases, Versions 9 (ICD-9) and 10 (ICD-10) as 752.7 (Indeterminate sex and pseudohermaphroditism){{cite web|url=http://www.icd9data.com/2012/Volume1/740-759/752/752.7.htm|title=2012 ICD-9-CM Diagnosis Code 752.7 : Indeterminate sex and pseudohermaphroditism|access-date=2022-03-03}} and Q56 (Interdeterminate sex and pseudohermaphroditism),{{cite web|url=https://www.icd10data.com/ICD10CM/Codes/Q00-Q99/Q50-Q56/Q56-|title=2022 ICD-10-CM Diagnosis Code Q56* : Indeterminate sex and pseudohermaphroditism|access-date=2022-03-03}} it has since been removed in the eleventh version (ICD-11), in favor of LD2A.Y (Other specified malformative disorders of sex development).{{cite web|url=https://icd.who.int/browse11/l-m/en#/http%3a%2f%2fid.who.int%2ficd%2fentity%2f565049612%2fmms%2fother|title=ICD-11 for Mortality and Morbidity Statistics (Version: 02/2022) : LD2A.Y Other specified malformative disorders of sex development|access-date=2022-03-03}}

Some experts have indicated that both pseudohermaphroditism (also called false hermaphroditism) and true hermaphroditism are outdated,{{cite book |last1=Mehmood |first1=Khawar T. |last2=Rentea |first2=Rebecca M. |title=StatPearls |date=2024 |publisher=StatPearls Publishing |chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK557435/ |chapter=Ambiguous Genitalia and Disorders of Sexual Differentiation |pmid=32491367 }}{{MedlinePlusEncyclopedia|001669|Intersex}}{{cite journal |last1=Kim |first1=Kun Suk |last2=Kim |first2=Jongwon |title=Disorders of Sex Development |journal=Korean Journal of Urology |date=2012 |volume=53 |issue=1 |pages=1–8 |doi=10.4111/kju.2012.53.1.1 |pmid=22323966 |pmc=3272549 }}{{cite book |last1=Amato V |title=Intersex Narratives: Shifts in the Representation of Intersex Lives in North American Literature and Popular Culture |date=2016 |publisher=Transcript Verlag |location=Bielefeld |isbn=978-3-8394-3419-2}}{{pn|date=August 2024}}{{cite journal |last1=Reis |first1=Elizabeth |title=Divergence or Disorder?: the politics of naming intersex |journal=Perspectives in Biology and Medicine |date=September 2007 |volume=50 |issue=4 |pages=535–543 |doi=10.1353/pbm.2007.0054 |pmid=17951887 }}{{cite journal | vauthors = Hughes IA | title = Disorders of sex development: a new definition and classification | journal = Best Practice & Research. Clinical Endocrinology & Metabolism | volume = 22 | issue = 1 | pages = 119–134 | date = February 2008 | pmid = 18279784 | doi = 10.1016/j.beem.2007.11.001 }} confusing,{{cite journal | vauthors = Houk CP, Hughes IA, Ahmed SF, Lee PA | title = Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference | journal = Pediatrics | volume = 118 | issue = 2 | pages = 753–757 | date = August 2006 | pmid = 16882833 | doi = 10.1542/peds.2006-0737 | s2cid = 46508895 | author5 = Writing Committee for the International Intersex Consensus Conference Participants }} and potentially pejorative terms,{{cite book|url=https://books.google.com/books?id=Mve0DwAAQBAJ&dq=pseudohermaphroditism+pejorative&pg=PA841|title=Maternal-Fetal and Neonatal Endocrinology: Physiology, Pathophysiology, and Clinical Management, p. 841|isbn=9780128148242|access-date=2022-03-03| vauthors = Kovacs CS, Deal C | date=12 October 2019|publisher=Academic Press }}{{cite web|url=https://www.lgbtqiahealtheducation.org/wp-content/uploads/2020/08/Affirming-Primary-Care-for-Intersex-People-2020.pdf|title=Affirming Primary Care for Intersex People, 2020|access-date=2022-03-03}} indicating replacement with "disorders of sex development", "disorders of sexual development", "differences of sex development" (all abbreviated as DSD) or "intersex".

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".{{cite web|url=https://isna.org/node/16/|title=On the Word Hermaphrodite - Intersex Society of North America|access-date=2022-03-03}} 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".{{cite journal | vauthors = Dreger AD, Chase C, Sousa A, Gruppuso PA, Frader J | title = Changing the nomenclature/taxonomy for intersex: a scientific and clinical rationale | journal = Journal of Pediatric Endocrinology & Metabolism | volume = 18 | issue = 8 | pages = 729–733 | date = August 2005 | pmid = 16200837 | doi = 10.1515/jpem.2005.18.8.729 | s2cid = 39459050 }}

• (DoDI) 6130.03, 2018, section 5, 13f and 14m
• Disorders of sex development
• Intersex medical interventions
• Diophantus of Abae
• Callon of Epidaurus
• Complete Androgen Insensitivity Syndrome
• Narave pig

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{{Medical resources

| DiseasesDB = 14836

| ICD10 = {{ICD10|Q|56|1|q|50}}-{{ICD10|Q|56|3|q|50}}

| ICD9 = {{ICD9|752.7}}

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| MeshID = D012734

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{{Congenital malformations of genital organs}}

Category:Congenital disorders of genital organs

Category:Intersex variations