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Other namesPseudo-hermaphroditism
SpecialtyGynecology, endocrinology

Pseudohermaphroditism is a condition in which an individual has a matching chromosomal and gonadal tissue (ovary or testis) sex, but mismatching external genitalia.

Female pseudohermaphroditism refers to an individual with ovaries and external genitalia resembling those of a male. Male pseudohermaphroditism refers to an individual with testes and external genitalia resembling those of a female.[1][2] 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.

The term contrasts with true hermaphroditism, a condition describing an individual with both female and male reproductive organs.

Associated conditions include 5-α-reductase deficiency and androgen insensitivity syndrome.


Sex 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.[3] 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.[4]

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.[5]

Persistent Müllerian duct syndrome is 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 doctoral thesis was titled Hermaphroditism: An Inquiry into the Nature of a Human Paradox, and awarded by Harvard University in 1952.[11]


The term "pseudohermaphroditism" was created by Edwin Klebs in 1876.[12][13]

See also[edit]


  1. ^ "Pseudohermaphroditism | pathology". Encyclopedia Britannica. Retrieved 2021-07-03.
  2. ^ Michiels, I.; Peperstraete, L.; De Wever, I.; Gruwez, J. A. (July 1984). "Inguinal hernia repair leading to the diagnosis of internal male pseudohermaphroditism". Acta Chirurgica Belgica. 84 (4): 255–258. ISSN 0001-5458. PMID 6485686.
  3. ^ Wilson, D.; Bordoni, B. (2021). "Embryology, Mullerian Ducts (Paramesonephric Ducts)". StatPearls. PMID 32491659.
  4. ^ "SRY gene: MedlinePlus Genetics". Retrieved 2021-07-03.
  5. ^ Celayir, A.; Moralioglu, S.; Cetiner, H.; Kir, G.; Celayir, S. (2019). "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. PMC 6593914. PMID 31297475.
  6. ^ Patil, V.; Muktinaini, S.; Patil, R.; Verma, A. (2013). "Persistent Müllerian Duct Syndrome: a Case Report". Indian Journal of Surgery. 75 (Suppl 1): 460–462. doi:10.1007/s12262-013-0831-6. PMC 3693295. PMID 24426648.
  7. ^ "Female Pseudohermaphroditism - an overview | ScienceDirect Topics". Retrieved 2021-07-03.
  8. ^ "Management of Male Pseudohermaphroditism: A Case Report Spanning Twenty-One Years". Journal of Pediatric Psychology.
  9. ^ Hughes, I. A.; Williams, D. M.; Batch, J. A.; Patterson, M. N. (1992). "Male pseudohermaphroditism: clinical management, diagnosis and treatment". Hormone Research. 38 Suppl 2 (2): 77–81. doi:10.1159/000182604. ISSN 0301-0163. PMID 1292987.
  10. ^ Boczkowski, Krzysztof (1974-01-01). "Management and Treatment of Male Pseudohermaphrodites". The Endocrine Function of the Human Testis: 247–256. doi:10.1016/B978-0-12-380102-9.50019-6. ISBN 9780123801029.
  11. ^ Money, John W. (1952). Hermaphroditism: An inquiry into the nature of a human paradox (PhD Thesis). Harvard University. OCLC 81648824.[page needed]
  12. ^ Zucker KJ (1999). "Intersexuality and gender identity differentiation". Annual Review of Sex Research. 10: 1–69. doi:10.1080/10532528.1999.10559774 (inactive 31 October 2021). PMID 10895247.CS1 maint: DOI inactive as of October 2021 (link)
  13. ^ Klebs, T. A. E. (1876). Handbuch der pathologischen Anatomie [Handbook of pathological anatomy]. Berlin: A. Hirschwald,[page needed]

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