Pseudohermaphroditism is an old clinical term for an organism that is born with primary sex characteristics of one sex but develops the secondary sex characteristics[1][2] that are different from what would be expected on the basis of the gonadal tissue (ovary or testis). It can be contrasted with the term true hermaphroditism, which described a condition where testicular and ovarian tissue were present in the same individual. This language has fallen out of favor due to misconceptions and pejorative connotations associated with the terms,[3] and also a shift to nomenclature based on genetics.

Other namesPseudo-hermaphroditism
SpecialtyGynecology, endocrinology

The term male pseudohermaphrodite was used when a testis is present, and the term female pseudohermaphrodite was used when an ovary is present.[4]

In some cases, external sex organs associated with pseudohermaphroditism look intermediate between a typical clitoris and penis. In other cases, the external sex organs have an appearance that would be expected to be seen with the "opposite" gonadal tissue. Because of this, pseudohermaphroditism is sometimes not identified until puberty or adulthood.[5]

Associated conditions include 5-α-reductase deficiency[6] and androgen insensitivity syndrome.[7][8]


Sex determination and differentiation is generalized with chromosomal sex during fertilization. At early stages, phenotypic sex does not match chromosomal sex—until later during intrauterine development, sexual maturation is reached. During intrauterine development, females change to male with the testes moving down from a blind vaginal pouch with a developing scrotum, as well as a penis which initially resembled a clitoris. What seems like a female phenotype is altered by increased testosterone levels secretion.[9]

Mutations affecting the androgen receptor (AR) gene may cause either complete or partial androgen insensitivity syndrome. Androgen, a hormone used to describe a group of sex steroid hormones, is responsible for affecting male pseudohermaphroditism. The differentiation of the fetus as male takes place during the sixth or seventh week of gestation. The development is directed by the testicular determining factor: the gene SRY (sex determining region on Y chromosome). Throughout 9th to 13th week, the development of a male genitalia is dependent upon the conversion of testosterone to the more potent androgen by the action of 5α-reductase within the target tissues of the genitalia.[10] A type of internal male pseudohermaphroditism is Persistent Müllerian duct syndrome, which is developed through synthesis of Müllerian-inhibiting factor defects. In such instances, duct derivatives are now in 46XY males—this includes the uterus, fallopian tubes, and upper vagina. These individuals with a hernia sac and bowel loops were found with duct derivatives as well as testes.[11]

A study on a male pseudohermaphrodite kitten showed there was a combination of gastrointestinal and urogenital congenital abnormalities. It was confirmed to have type II atresia ani and rectovaginal fistula that is associated with male pseudohermaphroditism.[12]

The condition is diagnosed only during the puberty. The boys might have feminine secondary sexual features and girls might show masculine features. They may later go on with surgery to correct their body parts according to their gender.


Surgery is[13] sometimes performed to alter the appearance of the genitals.[14][15] However many surgeries performed on intersex people lack clear evidence of necessity, can be considered as mutilating, and are widely considered to be human rights violations when performed without the informed consent of the recipient.[16][17][18][19]


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.[20]

Money's general views on gender identity as something learned during childhood were later directly contradicted by a biography published in 2001 by one of his former patients, David Reimer. Among the repercussions was damage to John Money's reputation. Not only had his theory of gender plasticity been dealt a severe blow but Reimer's biography described bizarrely unpleasant childhood therapy sessions, and implied that Money had ignored or concealed the developing evidence that Reimer's reassignment to female was not going well. Money's defenders have suggested that some of the allegations about the therapy sessions may have been the result of False memory syndrome. However, Reimer's brother and mother both agreed that the therapy was not "working" in the sense that Reimer wasn't in any way developing a female self-image during his treatment with Dr. Money. Dr. Money never publicly stated that his conclusions were incorrect.

Milton Diamond become a well known expert public advocate on intersex in the early 21st century. He is the director of the Pacific Center for Sex and Society.[21]


Use of the term "pseudohermaphroditism" can be problematic, and is now considered redundant.[22] The term "pseudohermaphroditism" was created by Edwin Klebs in 1876,[23][24] long before the genetic roles of the X chromosome and Y chromosome and the social components of gender identity were well characterized, which is why the term is usually used to describe the dissonance between gonadal histology and external genital appearance.

The term "intersexuality" was introduced by Richard Goldschmidt in 1923.[23][25] However, the term "intersex" has also been challenged; the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology have adopted a nomenclature system based on disorders of sex development (DSD), which covers "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical" and thus replaces many disparate terms, including but not limited to those based on "hermaphrodite".[22]

While it adopted the term to open "many more doors", the now defunct Intersex Society of North America itself remarked that intersex is not a disorder.[26] 'DSD' is itself heavily contested, including by civil society organizations, human rights institution and academics. Academics like Georgiann Davis[27] and Morgan Holmes, and clinical psychologists like Tiger Devore[28] argue that the term DSD was designed to "reinstitutionalise" medical authority over intersex bodies, making intersex bodies more treatable and more of a stigma" (Holmes).[29] or place intersex "neatly into medical turf and safely away from critics of its medicalisation" (Davis).[27] In May 2016, Interact Advocates for Intersex Youth published a statement opposing pathologizing language to describe people born with intersex traits, recognizing "increasing general understanding and acceptance of the term "intersex"".[30]

One example of the challenges involved in the use of the term is the case of women with complete androgen insensitivity syndrome (CAIS). These women often have primary and secondary sexual characteristics typical of other women; however, they are karyotypically XY and have internal testes, rather than ovaries. They have the same likelihood of a karyotypically XX woman of enjoying sexual pleasure but are unable to biologically reproduce. Their sexuality (homosexual, heterosexual, bisexual etc.) is not necessarily determined by this syndrome. However scientifically precise the description "male" pseudohermaphrodite may be for such women, its social inappropriateness is in controversy.

See also


  1. "Dorlands Medical Dictionary". Archived from the original on 2007-12-28. Retrieved 2007-12-07.
  2. "MESH". Retrieved 2007-12-07.
  3. Dreger, Alice D.; Chase, Cheryl; Sousa, Aron; Gruppuso, Phillip A.; Frader, Joel (18 August 2005). ""Changing the Nomenclature/Taxonomy for Intersex: A Scientific and Clinical Rationale."" (PDF). Journal of Pediatric Endocrinology and Metabolism. Archived from the original (PDF) on 2016-12-20. Retrieved 27 July 2016.
  4. Langman, Jan; Thomas Sadler (2006). Langman's medical embryology. Hagerstown, MD: Lippincott Williams & Wilkins. ISBN 0-7817-9485-4.
  5. Michiels I, Peperstraete L, De Wever I, Gruwez JA (1984). "Inguinal hernia repair leading to the diagnosis of internal male pseudohermaphroditism". Acta Chir. Belg. 84 (4): 255–8. PMID 6485686.
  6. 5ARD is also known as 5-α-reductase 2 deficiency because the 5-α-reductase 2 gene is deficient
  7. Wilson JD; Griffin JE; Russell DW. (Oct 1993). "Steroid 5 alpha-reductase 2 deficiency". Endocr. Rev. 14 (5): 577–93. doi:10.1210/er.14.5.577. PMID 8262007. In the 20 years since it was established that impairment of dihydrotestosterone formation is the cause of a rare form of human intersex, a wealth of information has accumulated about the genetics, endocrinology, and variable phenotypic manifestations, culminating in the cloning of cDNAs encoding two 5 alpha-reductase genes and documentation that mutations in the steroid 5 alpha-reductase 2 gene are the cause of 5 alpha-reductase deficiency. Perplexing and difficult problems remain unresolved, e.g., whether the variability in manifestations is due to variable expressions of steroid 5 alpha-reductase 1 or to effects of testosterone itself. It is also imperative to establish whether defects in steroid 5 alpha-reductase 2, perhaps in the heterozygous state, are responsible for a portion of cases of sporadic hypospadias, to determine whether 5 alpha-reductase plays a role in progesterone action in women, and to elucidate the relation between androgen action and gender role behavior
  8. Alias AG. (Dec 2004). "A role for 5alpha-reductase activity in the development of male homosexuality?". Ann N Y Acad Sci. New York, NY, USA: New York Academy of Sciences. 1032: 237–44. doi:10.1196/annals.1314.029. PMID 15677419. Higher body hair with lower mesmorphism ratings were observed in Caucasian homosexual men compared with the general male population, reflecting elevated 5alpha-reductase (5alphaR) activity, and higher dihydrotestosterone-to-testosterone (DHT-to-T) ratio, in sharp contrast to 46,XY 5alphaR 2 deficiency subjects, who are often born with ambiguous, or female genitalia, but tend to grow up to be muscular, heterosexual men with very little body hair, or beard. One study also showed them scoring around dull normal IQs. A greater prevalence of liberal body hair growth in men with higher IQs and/or educational levels was also observed in several samples. The exceptions to this statistical trend are too unsettling, however. Nevertheless, the results of a number of published studies, including one showing higher DHT-to-T ratio in homosexual men, done with different objectives over a span of 80 years, together strongly support these findings. Furthermore, in an animal model, "cognitive-enhancing effects" of "5alpha-reduced androgen [metabolites]" were recently demonstrated.
  9. Cummings, Michael R. "Human Heredity: Principles and Issues". Cengage Learning, 2011, 2009. p. 168.
  10. Lane PH, Steffes MW, Mauer SM (May 1990). "Renal histologic changes in diabetes mellitus". Seminars in Nephrology. 10 (3): 254–9. PMID 2190282.
  11. Patil V, Muktinaini S, Patil R, Verma A (June 2013). "Persistent müllerian duct syndrome: a case report". The Indian Journal of Surgery. 75 (Suppl 1): 460–2. doi:10.1007/s12262-013-0831-6. PMC 3693295. PMID 24426648.
  12. Vallefuoco R, Alleaume C, Jardel N, Maenhoudt C, Cordonnier N (May 2013). "Type II atresia ani associated with rectovaginal fistula in a male pseudohermaphrodite kitten". The Canadian Veterinary Journal. 54 (5): 475–8. PMC 3624915. PMID 24155431.
  13. Overington, Caroline (December 8, 2016). "Carla's case ignites firestorm among intersex community on need for surgery". The Australian.
  14. Piró C, Asensio M, Barceló C, Martín JA, Chicaiza E (July 2004). "[Good results with Passerini's technique in severely masculinised female pseudohermaphroditism]". Cirugía Pediátrica (in Spanish). 17 (3): 118–21. PMID 15503946.
  15. Nihoul-Fékété C, Thibaud E, Lortat-Jacob S, Josso N (May 2006). "Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients". The Journal of Urology. 175 (5): 1878–84. doi:10.1016/S0022-5347(05)00934-1. PMID 16600787.
  16. Report of the UN Special Rapporteur on Torture, Office of the UN High Commissioner for Human Rights, February 2013.
  17. UN Committee against Torture; UN Committee on the Rights of the Child; UN Committee on the Rights of People with Disabilities; UN Subcommittee on Prevention of Torture and other Cruel Inhuman or Degrading Treatment or Punishment; Juan Méndez, Special Rapporteur on torture and other cruel inhuman or degrading treatment or punishment; Dainius Pῡras, Special Rapporteur on the right of everyone to the enjoyment of the highest attainable standard of physical and mental health; Dubravka Šimonoviæ, Special Rapporteur on violence against women its causes and consequences; Marta Santos Pais, Special Representative of the UN Secretary-General on Violence against Children; African Commission on Human and Peoples' Rights; Council of Europe Commissioner for Human Rights; Inter-American Commission on Human Rights (October 24, 2016), "Intersex Awareness Day – Wednesday 26 October. End violence and harmful medical practices on intersex children and adults, UN and regional experts urge", Office of the High Commissioner for Human Rights
  18. Zwischengeschlecht (March 2014). "IGM – Historical Overview. Hermaphrodites in the 'Developed World': From Legal Self-Determination to IGM, Supplement 1". NGO Report to the 2nd, 3rd and 4th Periodic Report of Switzerland on the Convention on the Rights of the Child (CRC) (PDF) (2 ed.). pp. 49–62.
  19. Council of Europe; Commissioner for Human Rights (April 2015), Human rights and intersex people, Issue Paper
  20. Money, John W. (1952). Hermaphroditism: An inquiry into the nature of a human paradox (PhD Thesis). Harvard University. OCLC 81648824.
  21. "Pacific Center for Sex and Society, Dept. Anatomy & Reproduction Biology - John A. Burns School of Medicine, UHM". Retrieved 2007-11-26.
  22. Lee PA, Houk CP, Ahmed SF, Hughes IA (August 2006). "Consensus statement on management of intersex disorders. International Consensus Conference on Intersex". Pediatrics. 118 (2): e488–500. doi:10.1542/peds.2006-0738. PMID 16882788.
  23. Zucker KJ (1999). "Intersexuality and gender identity differentiation". Annual Review of Sex Research. 10: 1–69. doi:10.1080/10532528.1999.10559774. PMID 10895247.
  24. Klebs, T. A. E. (1876). Handbuch der pathologischen Anatomie [Handbook of pathological anatomy]. Berlin: A. Hirschwald,
  25. Goldschmidt, R. (1923). The Mechanism and Physiology of Sex Determination, Methuen & Co., London.
  26. "Why is ISNA using 'DSD'?". Intersex Society of North America. Retrieved 2007-12-07.
  27. Davis, Georgiann (2011). McGann, PJ; Hutson, David J. (eds.). "DSD is a Perfectly Fine Term": Reasserting Medical Authority through a Shift in Intersex Terminology". Sociology of Diagnosis (Advances in Medical Sociology). Emerald Group Publishing Limited. pp. 155–182.
  28. "An Interview with Dr. Tiger Howard Devore PhD". We Who Feel Differently. February 7, 2011.
  29. Holmes, Morgan (2011). "The Intersex Enchiridion: Naming and Knowledge in the Clinic". Somatechnics. 1 (2): 87–114. doi:10.3366/soma.2011.0026.
  30. interACT (May 2016). "interACT Statement on Intersex Terminology". Interact Advocates for Intersex Youth. Retrieved 30 May 2016.
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