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Pseudohermaphroditism

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Title: Pseudohermaphroditism  
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Subject: Disorders of sex development, Isolated 17,20-lyase deficiency, Leydig cell hypoplasia, Aphallia, Intersex
Collection: Biology of Gender, Congenital Disorders of Genital Organs, Intersex and Medicine, Sexual Anatomy
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Pseudohermaphroditism

Pseudohermaphroditism
Classification and external resources
ICD-10 Q56.1-Q56.3
ICD-9 752.7
DiseasesDB 14836 14839
MeSH D012734

Pseudohermaphroditism, or pseudo-hermaphroditism, is the condition in which an organism 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).

In some cases, the external puberty. It is possible for the condition to be undetected until adulthood.[3]

The term "male pseudohermaphrodite" is used when a testis is present, and the term "female pseudohermaphrodite" is used when an ovary is present.[4] The term "true" hermaphrodite is reserved for the very rare cases where both ovarian and testicular tissue are present. (Whether or not that term would be appropriate when ovotestes are found, or only when distinct ovaries and testes are found, is not well defined.)

Associated conditions in males include 5-α-reductase deficiency[5] from a deficiency in the male chromosome (46 XY).[6][7]

Contents

  • Genetics 1
  • Surgery 2
  • Terminology 3
  • History 4
  • See also 5
  • References 6

Genetics

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 secretion levels secretion.[8]

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.[9] 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.[10]

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.[11]

Surgery

Surgery has sometimes been performed to alter the appearance of the genitals.[12][13]

Terminology

Use of the term "pseudohermaphroditism" can be problematic, and is now considered redundant.[14] The term "pseudohermaphroditism" was created by Edwin Klebs in 1876,[15][16] 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.[15][17] 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, 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."[14][18]

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 genetically XY and have internal testes, rather than ovaries. They have the same likelihood of a genetically XX woman of enjoying sexual pleasure but are unable to biologically reproduce. Their sexuality (homosexual, heterosexual, bisexual etc.) is unrelated to this syndrome. However scientifically precise the description "male" pseudohermaphrodite may be for such women, it is clearly socially inappropriate. CAIS is considered little better by some, as the S for syndrome in CAIS does not accord with the "normality" many CAIS women feel about their bodies.

In human beings, the sex status is defined at four levels: signal transduction proteins are coded by genes that may be genetically defective.

All these factors mean that genetic mutations can block the sexual development process at three stages: (a) before the development of the internal sex organs; (b) after the development of the internal sex organs but before the development of external sex organs; and (c) after the development of external sex organs but before the maturation of the sexual component of the psyche.

While in (a) the XY human will be indistinguishable anatomically and psychologically from a female; in (b) the individual may either be born with ambiguous external genitals or have genitals apparently in the normal range at birth but, at pubertal age, not develop secondary sexual characteristics at all or develop secondary sexual characteristics that do not match the external genitals; and in (c) the individual will be transgendered (formerly referred to as transsexual).

There are other intersexual states that are not the result of the genetic configurations above.

In particular, where either the individual is a chimera - resulting from a fusion of two distinct embryos, one male and one female, during fetal development (not a genetic mosaic), or the individual contains duplicated chromosomes in the genome (XXY; XXXY). In the former case some tissues will be in the XX and others in the XY configuration; in the latter, all cells contain the Y chromosome and may or may not use it. This is a gynandromorph, which has both female and male characteristics at all four levels and may have either ambiguous sex organs (the XY/XX configuration may not be evenly distributed throughout the body) or unambiguous male and female sex organs (hermaphrodite).

History

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.[19]

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 has probably become the best known expert public advocate for the intersex community in the early 21st century. He is the director of the Pacific Center for Sex and Society.[20]

See also

References

  1. ^ "Dorlands Medical Dictionary". Archived from the original on 2007-12-28. Retrieved 2007-12-07. 
  2. ^ "MESH". Retrieved 2007-12-07. 
  3. ^ 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.  
  4. ^ Langman, Jan; Thomas Sadler (2006). Langman's medical embryology. Hagerstown, MD: Lippincott Williams & Wilkins.  
  5. ^ 5ARD is also known as 5-α-reductase 2 deficiency because the 5-α-reductase 2 gene is deficient
  6. ^ Wilson JD, Griffin JE, Russell DW. (Oct 1993). "Steroid 5 alpha-reductase 2 deficiency.". Endocr Rev. 14 (5): 577–93.  
  7. ^ 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.  
  8. ^ Cummings, Michael R. "Human Heredity: Principles and Issues". Cengage Learning, 2011, 2009. p. 168.
  9. ^ Lane PH, Steffes MW, Mauer SM (May 1990). "Renal histologic changes in diabetes mellitus". Seminars in Nephrology 10 (3): 254–9.  
  10. ^ 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.  
  11. ^ 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.  
  12. ^ 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.  
  13. ^ 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.  
  14. ^ a b 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.  
  15. ^ a b Zucker KJ (1999). "Intersexuality and gender identity differentiation". Annual Review of Sex Research 10: 1–69.  
  16. ^ Klebs, T. A. E. (1876). Handbuch der pathologischen Anatomie [Handbook of pathological anatomy]. Berlin: A. Hirschwald,
  17. ^ Goldschmidt, R. (1923). The Mechanism and Physiology of Sex Determination, Methuen & Co., London.
  18. ^ "Why is ISNA using 'DSD'?". Intersex Society of North America. Retrieved 2007-12-07. 
  19. ^ Money, John W. (1952). Hermaphroditism: An inquiry into the nature of a human paradox (PhD Thesis). Harvard University.  
  20. ^ "Pacific Center for Sex and Society, Dept. Anatomy & Reproduction Biology - John A. Burns School of Medicine, UHM". Retrieved 2007-11-26. 
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