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Pseudohermaphroditism

Pseudohermaphroditism or pseudo-hermaphroditism, is a name used to describe people born with secondary sex characteristics or a phenotype which is different from what would be expected based upon the gonadal tissue (ovary or testis).

In some cases, the external sex organs look intermediate between the typical vagina or penis. In other cases, the external sex organs have an appearance that does not look intermediate, but rather has the appearance that would be expected to be seen with the “opposite” gonadal tissue. Because of this, pseudohermaphroditism is sometimes not identified until puberty.

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

It is possible for the condition to be undetected until adulthood.

Associated conditions in males include 5-alpha-reductase deficiency.

Surgery

Surgery has sometimes been performed to alter the appearance of the genitals. Modern approaches often involve delaying surgery when possible until the child matures enough to express a preference.

Terminology

Use of the term “pseudohermaphroditism” can be problematic. The term “pseudohermaphroditism” was created by Edwin Klebs in 1876, long before the genetic roles of the X chromosome and Y chromosome and the social components of gender identity were well characterised, 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. 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.”

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 typically have primary and secondary sexual characteristics typical of other women; however, they are genetically XY and have internal testes, rather than ovaries. They often marry but cannot have children. However scientifically precise the description “male” pseudohermaphrodite may be for such women, it is clearly socially inappropriate. CAIS is little better. The S for syndrome in CAIS does not accord with the “normality” CAIS women feel about their bodies.

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. Money was forced to change his mind about several of his early views in the course of his career (see main entry David Reimer).

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.

References

  • Klebs, T. A. E. (1876). Handbuch der pathologischen Anatomie (Handbook of pathological anatomy). Berlin: A. Hirschwald,
  • Goldschmidt, R. (1923). The Mechanism and Physiology of Sex Determination, Methuen & Co., London.
  • Lee, P. A., C. P. Houk, S. F. Ahmed, and I. A. Hughes. 2006. Consensus statement on management of intersex disorders. Pediatrics 118 (2):e488-500. http://pediatrics.aappublications.org/cgi/reprint/118/2/e488
  • Money, J. W. (1952). Hermaphroditism: An inquiry into the nature of a human paradox. Unpublished doctoral dissertation, Harvard University.

See also