Pseudohermaphroditism Explained

Pseudohermaphroditism
Synonyms:Pseudo-hermaphroditism
Field:Gynecology, endocrinology

Pseudohermaphroditism is an outdated[1] term for when an individual's gonads were mismatched with their internal reproductive system and/or external genitalia.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.

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.[2] 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.[3]

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.[4]

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.[5] [6] 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.[7]

Management

See main article: 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.[8] [9] [10] [11]

History

See main article: Intersex in history and 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.[12]

Other animals

Narave pigs, which are native to Malo Island, Vanuatu, are pseudohermaphrodite male domestic pigs that are kept for ceremonial purposes.[13] [14] [15]

Terminology

The term "Pseudohermaphroditimus" (pseudohermaphroditism) was coined in German by Edwin Klebs in 1876.[16] [17] 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.[18]

Although "pseudohermaphroditism" persisted in the International Classification of Diseases, Versions 9 (ICD-9) and 10 (ICD-10) as 752.7 (Indeterminate sex and pseudohermaphroditism)[19] and Q56 (Interdeterminate sex and pseudohermaphroditism),[20] it has since been removed in the eleventh version (ICD-11), in favor of LD2A.Y (Other specified malformative disorders of sex development).[21]

Some experts have indicated that both pseudohermaphroditism (also called false hermaphroditism) and true hermaphroditism are outdated,[22] [23] [24] [25] [26] confusing,[27] and potentially pejorative terms,[28] [29] 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".[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]

See also

Notes and References

  1. Lee . Peter A. . Houk . Christopher P. . Ahmed . S. Faisal . Hughes . Ieuan A. . 1 August 2006 . Consensus Statement on Management of Intersex Disorders . Pediatrics . 118 . 2 . e488–e500 . 10.1542/peds.2006-0738 . 16882788 . 11236329 . 1 May 2023.
  2. Book: Wilson . Danielle . Bordoni . Bruno . StatPearls . 2024 . StatPearls Publishing . https://www.ncbi.nlm.nih.gov/books/NBK557727/ . Embryology, Mullerian Ducts (Paramesonephric Ducts) . 32491659 .
  3. Web site: SRY gene: MedlinePlus Genetics. 2021-07-03. medlineplus.gov. en.
  4. Celayir A, Moralioglu S, Cetiner H, Kir G, Celayir S . Expression of androgen, estrogen, and progesterone hormone receptors in the penile tissues of children with different types of hypospadias . Northern Clinics of Istanbul . 6 . 2 . 110–116 . 2019 . 31297475 . 6593914 .
  5. Web site: Pseudohermaphroditism pathology . 2021-07-03 . Encyclopedia Britannica . en.
  6. 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 . 6485686.
  7. Patil V, Muktinaini S, Patil R, Verma A . Persistent müllerian duct syndrome: a case report . The Indian Journal of Surgery . 75 . Suppl 1 . 460–462 . June 2013 . 24426648 . 3693295 . 10.1007/s12262-013-0831-6 .
  8. Boyd . Theonia K. . Disorders of Sexual Differentiation . Surgical Pathology Clinics . September 2010 . 3 . 3 . 553–601 . 10.1016/j.path.2010.06.003 . 26839224 .
  9. Quattrin T, Aronica S, Mazur T . Management of male pseudohermaphroditism: a case report spanning twenty-one years . Journal of Pediatric Psychology . 15 . 6 . 699–709 . December 1990 . 2283575 . 10.1093/jpepsy/15.6.699 .
  10. Hughes IA, Williams DM, Batch JA, Patterson MN . Male pseudohermaphroditism: clinical management, diagnosis and treatment . Hormone Research . 38 . 2 . 77–81 . 1992 . 1292987 . 10.1159/000182604 .
  11. Book: 10.1016/B978-0-12-380102-9.50019-6 . Management and Treatment of Male Pseudohermaphrodites . The Endocrine Function of the Human Testis . 1974 . Boczkowski . Krzysztof . 247–256 . 978-0-12-380102-9 .
  12. Money JW . John Money . 1952 . Hermaphroditism: An inquiry into the nature of a human paradox . PhD . Harvard University . 81648824.
  13. Lum JK, McIntyre JK, Greger DL, Huffman KW, Vilar MG . Recent Southeast Asian domestication and Lapita dispersal of sacred male pseudohermaphroditic "tuskers" and hairless pigs of Vanuatu . Proceedings of the National Academy of Sciences of the United States of America . 103 . 46 . 17190–17195 . November 2006 . 17088556 . 1859908 . 10.1073/pnas.0608220103 . 2006PNAS..10317190L . free .
  14. Web site: Intersex Pigs. Southwest Pacific Research Project. 2023-03-07.
  15. Web site: Pigs in Paradise. Penn State University. 2023-03-07.
  16. Zucker KJ . Intersexuality and gender identity differentiation . Annual Review of Sex Research . 10 . 1–69 . 1999 . 10895247 . 10.1080/10532528.1999.10559774 . 31 January 2024 .
  17. 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
  18. 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
  19. Web site: 2012 ICD-9-CM Diagnosis Code 752.7 : Indeterminate sex and pseudohermaphroditism. 2022-03-03.
  20. Web site: 2022 ICD-10-CM Diagnosis Code Q56* : Indeterminate sex and pseudohermaphroditism. 2022-03-03.
  21. Web site: ICD-11 for Mortality and Morbidity Statistics (Version: 02/2022) : LD2A.Y Other specified malformative disorders of sex development. 2022-03-03.
  22. Book: Mehmood . Khawar T. . Rentea . Rebecca M. . StatPearls . 2024 . StatPearls Publishing . https://www.ncbi.nlm.nih.gov/books/NBK557435/ . Ambiguous Genitalia and Disorders of Sexual Differentiation . 32491367 .
  23. Kim . Kun Suk . Kim . Jongwon . Disorders of Sex Development . Korean Journal of Urology . 2012 . 53 . 1 . 1–8 . 10.4111/kju.2012.53.1.1 . 22323966 . 3272549 .
  24. Book: Amato V . Intersex Narratives: Shifts in the Representation of Intersex Lives in North American Literature and Popular Culture . 2016 . Transcript Verlag . Bielefeld . 978-3-8394-3419-2.
  25. Reis . Elizabeth . Divergence or Disorder?: the politics of naming intersex . Perspectives in Biology and Medicine . September 2007 . 50 . 4 . 535–543 . 10.1353/pbm.2007.0054 . 17951887 .
  26. Hughes IA . Disorders of sex development: a new definition and classification . Best Practice & Research. Clinical Endocrinology & Metabolism . 22 . 1 . 119–134 . February 2008 . 18279784 . 10.1016/j.beem.2007.11.001 .
  27. Houk CP, Hughes IA, Ahmed SF, Lee PA . Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference . Pediatrics . 118 . 2 . 753–757 . August 2006 . 16882833 . 10.1542/peds.2006-0737 . 46508895 . Writing Committee for the International Intersex Consensus Conference Participants .
  28. Book: Maternal-Fetal and Neonatal Endocrinology: Physiology, Pathophysiology, and Clinical Management, p. 841. 9780128148242. 2022-03-03. Kovacs CS, Deal C . 12 October 2019. Academic Press .
  29. Web site: Affirming Primary Care for Intersex People, 2020. 2022-03-03.
  30. Web site: On the Word Hermaphrodite - Intersex Society of North America. 2022-03-03.
  31. Dreger AD, Chase C, Sousa A, Gruppuso PA, Frader J . Changing the nomenclature/taxonomy for intersex: a scientific and clinical rationale . Journal of Pediatric Endocrinology & Metabolism . 18 . 8 . 729–733 . August 2005 . 16200837 . 10.1515/jpem.2005.18.8.729 . 39459050 .

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