True hermaphroditism

True hermaphroditism
Synonyms DiseasesDB = 29664
This condition is inherited in an autosomal recessive manner
Specialty Obstetrics and gynaecology, Endocrinology Edit this on Wikidata

True hermaphroditism, clinically known as ovotesticular disorder of sex development,[1] is a medical term for an intersex condition in which an individual is born with ovarian and testicular tissue. More commonly one or both gonads is an ovotestis containing both types of tissue.

Although similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically.[2]

Presentation

External genitalia are often ambiguous, the degree depending mainly on the amount of testosterone produced by the testicular tissue between 8 and 16 weeks of gestation.

Causes

There are several ways in which this may occur.

  • It can be caused by the division of one ovum, followed by fertilization of each haploid ovum and fusion of the two zygotes early in development.
  • Alternately, an ovum can be fertilized by two sperm followed by trisomic rescue in one or more daughter cells.
  • Two ova fertilized by two sperm cells will occasionally fuse to form a tetragametic chimera. If one male zygote and one female zygote fuse, a hermaphroditic individual may result.
  • It can be associated with a mutation in the SRY gene.[3]

Karyotypes

Encountered karyotypes include 47XXY, 46XX/46XY, or 46XX/47XXY or XX & XY with SRY Mutations, Mixed Chromosomal abnormalities or hormone deficiency/excess disorders, and various degrees of mosaicism of these and a variety of others. The 3 Primary Karyotypes for True Hermaphroditism are XX with genetic defects (55-70% of cases), XX/XY (20-30% of cases) & XY (5-15% of cases) with the remainder being a variety of other Chromosomal abnormalities and Mosaicisms.

Human prevalence

There are no documented cases in which both types of gonadal tissue function.[4]

Although fertility is possible in true hermaphrodites, there has yet to be a documented case where both gonadal tissues function, contrary to the misconception that hermaphrodites can impregnate themselves. As of 2010, there have been at least 11 reported cases of fertility in true hermaphrodite humans in the scientific literature,[2] with one case of a person with XY-predominant (96%) mosaic giving birth.[4]

Estimated prevalence is approximately 1/20,000 births. The disorder may account for less than 3-10% of all DSD.[5]

Etymology

The term derives from the Latin: hermaphroditus, from Ancient Greek: ἑρμαφρόδιτος, translit. hermaphroditos,[6] which derives from Hermaphroditos ( Ἑρμαϕρόδιτος), the son of Hermes and Aphrodite in Greek mythology. According to Ovid, he fused with the nymph Salmacis resulting in one individual possessing physical traits of both sexes;[7] according to the earlier Diodorus Siculus, he was born with a physical body combining both sexes.[8] The word hermaphrodite entered the English lexicon in the late fourteenth century.[9]

Society and culture

M.C. v. Aaronson

The U.S. legal case of M.C. v. Aaronson, advanced by intersex civil society organization interACT with the Southern Poverty Law Center was brought before the courts in 2013.[10][11][12][13] The child in the case was born in December 2004 with ovotestes, initially determined as male, but subsequently assigned female and placed in the care of South Carolina Department of Social Services in February 2005.[14] Physicians responsible for M.C. initially concluded that surgery was not urgent or necessary and M.C. had potential to identify as male or female, but, in April 2006, M.C. was subjected to feminizing medical interventions.[14] He was adopted in December 2006. Aged 8 at the time the case was taken, he now identifies as male. The Southern Poverty Law Center state: "In M.C.’s condition, there is no way to tell whether the child will ultimately identify as a boy or a girl. Instead, the doctors decided to assign M.C. female and change his body to fit their stereotype of how a girl should look."[11][15] The defendant in the case, Dr Ian Aaronson, had written in 2001 that "feminizing genitoplasty on an infant who might eventually identify herself as a boy would be catastrophic".[16][14]

The defendants sought to dismiss the case and seek a defense of qualified immunity, but these were denied by the District Court for the District of South Carolina. In January 2015, the Court of Appeals for the Fourth Circuit reversed this decision and dismissed the complaint, stating that, "it did not “mean to diminish the severe harm that M.C. claims to have suffered” but that a reasonable official in 2006 did not have fair warning from then-existing precedent that performing sex assignment surgery on sixteen-month-old M.C. violated a clearly established constitutional right."[17] The Court did not rule on whether or not the surgery violated M.C.'s constitutional rights.[18]

State suits were subsequently filed.[17] In July 2017, it was reported that the case had been settled out of court by the Medical University of South Carolina for $440,000. The University denied negligence, but agreed to a "compromise" settlement to avoid "costs of litigation."[19]

References

  1. ↑ Lee P. A., Houk C. P., Ahmed S. F., Hughes I. A.; Houk; Ahmed; Hughes (2006). "Consensus statement on management of intersex disorders". Pediatrics. 118 (2): e488–500. doi:10.1542/peds.2006-0738. PMC 2082839. PMID 16882788.
  2. 1 2 Kim, Kyu-Rae; Kwon, Youngmee; Joung, Jae Young; Kim, Kun Suk; Ayala, Alberto G.; ťRo, Jae Y. (2002). "True Hermaphroditism and Mixed Gonadal Dysgenesis in Young Children: A Clinicopathologic Study of 10 Cases". Modern Pathology. 15 (10): 1013–9. doi:10.1097/01.MP.0000027623.23885.0D. PMID 12379746.
  3. ↑ Braun, A; Kammerer, S; Cleve, H; Löhrs, U; Schwarz, H. P.; Kuhnle, U (1993). "True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): Molecular genetics and histological findings in a sporadic case". American Journal of Human Genetics. 52 (3): 578–85. PMC 1682159. PMID 8447323.
  4. 1 2 Schoenhaus, S. A.; Lentz, S. E.; Saber, P; Munro, M. G.; Kivnick, S (2008). "Pregnancy in a hermaphrodite with a male-predominant mosaic karyotype". Fertility and Sterility. 90 (5): 2016.e7–10. doi:10.1016/j.fertnstert.2008.01.104. PMID 18394621.
  5. ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: True hermaphroditism". www.orpha.net. Retrieved 2018-08-15.
  6. ↑ "Definition of hermaphroditus". Numen: The Latin Lexicon. Retrieved 19 July 2013.
  7. ↑ Ovid, Metamorphoses, Book IV: The story of Hermaphroditus and Salmacis.
  8. ↑ Diodorus Siculus — Book IV Chapters 1–7
  9. ↑ Oxford English Dictionary, 1st edn, s.v. hermaphrodite, n. and adj.; "Online Etymology Dictionary". Retrieved 3 June 2012.
  10. ↑ "AIC's Landmark Lawsuit Makes History!". AIC. May 16, 2013. Archived from the original on February 6, 2017.
  11. 1 2 Southern Poverty Law Center (May 14, 2013). "Groundbreaking SLPC Lawsuit Accuses South Carolina Doctors and Hospitals of Unnecessary Surgery on Infant". Retrieved 2015-07-20.
  12. ↑ Reis, Elizabeth (May 17, 2013). "Do No Harm: Intersex Surgeries and the Limits of Certainty". Nursing Clio. Retrieved 2015-07-20.
  13. ↑ Dreger, Alice (May 16, 2013). "When to Do Surgery on a Child With 'Both' Genitalia". The Atlantic. Retrieved 2015-07-20.
  14. 1 2 3 White, Ryan L. (2013). "Preferred Private Parts: Importing Intersex Autonomy for M.C. v. Aaronson". Fordham International Law Journal. 37: 777.
  15. ↑ "Adoptive parents sue over son's sex-assignment surgery". Washington Times.
  16. ↑ Aaronson, Ian A (July 2001). "The investigation and management of the infant with ambiguous genitalia: A surgeon's perspective". Current Problems in Pediatrics. 31 (6): 168–194. doi:10.1067/mps.2001.116127. ISSN 0045-9380.
  17. 1 2 Largent, Emily (March 5, 2015). "M.C. v. Aaronson". Petrie-Flom Center, Harvard Law.
  18. ↑ interACT (January 27, 2015). "Update on M.C.'s Case – The Road to Justice can be Long, but there is more than one path for M.C." Archived from the original on February 19, 2017. Retrieved 2017-02-18.
  19. ↑ Ghorayshi, Azeen (July 27, 2017). "A Landmark Lawsuit About An Intersex Baby's Genital Surgery Just Settled For $440,000". BuzzFeed. Retrieved 2017-07-27.
Classification
External resources
  • Media related to Intersex at Wikimedia Commons
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