True hermaphroditism

True hermaphroditism, sometimes referred to as ovotesticular disorder,[1][2][3] is an intersex condition in which an individual is born with ovarian and testicular tissue. Commonly one or both gonads is an ovotestis containing both types of tissue.[4] Ovotesticular disorders are a family of disorders which includes true hermaphroditism.

Ovotesticular disorder
Other namesDiseasesDB = 29664
This condition is inherited in an autosomal recessive manner
SpecialtyObstetrics and gynaecology, endocrinology 
Intersex topics
Human rights and legal issues
Medicine and biology
Society and culture
History and events
Rights by country
See also

Although similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically.[5]

    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.
    • It can be associated with a mutation in the SRY gene.[6]

    Karyotypes

    Encountered karyotypes include 46XX/46XY, or 46XX/47XXY or XX & XY with SRY mutations, mixed chromosomal anomalies or hormone deficiency/excess disorders, 47XXY, and various degrees of mosaicism of these and a variety of others. The 3 primary karyotypes for true hermaphroditism are XX with genetic anomalies (55-70% of cases), XX/XY (20-30% of cases) & XY (5-15% of cases) with the remainder being a variety of other chromosomal anomalies and mosaicisms.[7][8]

    Prevalence

    Estimated frequency of ovotestes is one in 83,000 births (0.0012%).[9]

    The exact number on confirmed cases is difficult but by 1991 approximately 500 cases have been confirmed.[10]

    Fertility

    There are extremely rare cases of fertility in "truly hermaphroditic" humans.[11][12] These individuals typically have functional ovarian tissue, but underdeveloped testes that are unable to engage in spermatogenesis. As a result, these individuals are fertile, but not auto-fertile.[13]

    There is evidence that 50% of individuals with ovotestes can go through ovulation but spermatogenesis is rare.[8]

    Spermatogenesis has been documented in 12% of cases.[8]

    There is a hypothetical scenario, though, in which it could be possible for a human to self fertilize. If a human chimera is formed from a male and female zygote fusing into a single embryo, giving an individual functional gonadal tissue of both types, such a self-fertilization is feasible. Indeed, it is known to occur in non-human species where hermaphroditic animals are common, including some mammals.[13][14] However, no such case of functional self-fertilization has ever been documented in humans.[13]

    As of 2010, there have been at least 11 reported cases of fertility in true hermaphrodite humans in the scientific literature,[5] with one case of a person with XY-predominant (96%) mosaic giving birth.[15]

    Etymology
    Further information: Intersex in history

    The term derives from the Latin: hermaphroditus, from Ancient Greek: ἑρμαφρόδιτος, romanized: hermaphroditos,[16] 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;[17] according to the earlier Diodorus Siculus, he was born with a physical body combining both sexes.[18] The word hermaphrodite entered the English lexicon in the late fourteenth century.[19]

    Society and culture

    Having ovotesticular disorder of sex development can make one inadmissible for service in the United States Armed Forces.[20]

    M.C. v. Aaronson
    Further information: Intersex rights in the United States

    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.[21][22][23][24] 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.[25] 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.[25] 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."[22][26] 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".[27][25]

    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."[28] The Court did not rule on whether or not the surgery violated M.C.'s constitutional rights.[29]

    State suits were subsequently filed.[28] 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."[30]

    See also

    References
    1. Disorders of Sex Development at eMedicine
    2. Barseghyan, Hayk; Vilain, Eric (2014). "The Genetics of Ovotesticular Disorders of Sex Development". Genetic Steroid Disorders. pp. 261–263. doi:10.1016/B978-0-12-416006-4.00020-X. ISBN 978-0-12-416006-4.
    3. Lee, Peter A.; Houk, Christopher P.; Ahmed, S. Faisal; Hughes, Ieuan A. (1 August 2006). "Consensus Statement on Management of Intersex Disorders". Pediatrics. 118 (2): e488–e500. doi:10.1542/peds.2006-0738. PMC 2082839. PMID 16882788.
    4. "ovo-testes (formerly called true hermaphroditism) | Intersex Society of North America". isna.org. Retrieved 2020-09-08.
    5. Kim, Kyu-Rae; Kwon, Youngmee; Joung, Jae Young; Kim, Kun Suk; Ayala, Alberto G.; Ro, Jae Y. (October 2002). "True Hermaphroditism and Mixed Gonadal Dysgenesis in Young Children: A Clinicopathologic Study of 10 Cases". Modern Pathology. 15 (10): 1013–1019. doi:10.1097/01.MP.0000027623.23885.0D. PMID 12379746.
    6. Braun, A; Kammerer, S; Cleve, H; Löhrs, U; Schwarz, H P; Kuhnle, U (March 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): 578–585. PMC 1682159. PMID 8447323.
    7. Bouvattier, Claire (2010-01-01), Gearhart, John P.; Rink, Richard C.; Mouriquand, Pierre D. E. (eds.), "CHAPTER 35 - DISORDERS OF SEX DEVELOPMENT: ENDOCRINE ASPECTS", Pediatric Urology (Second Edition), Philadelphia: W.B. Saunders, pp. 459–475, ISBN 978-1-4160-3204-5, retrieved 2020-09-08
    8. Ovotesticular Disorder of Sexual Development at eMedicine
    9. "ISNA - How common is intersex?". www.isna.org. Retrieved 2019-05-09.
    10. "7- OVOTESTICULAR DSD (TRUE HERMAPHRODITISM). | Request PDF". ResearchGate. Retrieved 2020-10-04.
    11. Krob, G.; Braun, A.; Kuhnle, U. (January 1994). "True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology". European Journal of Pediatrics. 153 (1): 2–10. doi:10.1007/BF02000779. PMID 8313919. S2CID 1931001.
    12. Ahmad, M.; Saleem, M.; Jam, M. R.; Iqbal, M. Z. (2011). "True hermaphrodite: a case report". APSP Journal of Case Reports. 2 (2): 16. ISSN 2218-8185. PMC 3418019. PMID 22953283.
    13. Bayraktar, Zeki (28 February 2017). "Potential autofertility in true hermaphrodites". The Journal of Maternal-Fetal & Neonatal Medicine. 31 (4): 542–547. doi:10.1080/14767058.2017.1291619. PMID 28282768. S2CID 22100505.
    14. Jarne, Philippe; Auld, Josh R. (2006). "Animals Mix It up Too: The Distribution of Self-Fertilization Among Hermaphroditic Animals". Evolution. 60 (9): 1816–24. doi:10.1554/06-246.1. PMID 17089966. S2CID 23849389.
    15. 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.
    16. "Definition of hermaphroditus". Numen: The Latin Lexicon. Retrieved 19 July 2013.
    17. Ovid, Metamorphoses, Book IV: The story of Hermaphroditus and Salmacis.
    18. Diodorus Siculus — Book IV Chapters 1–7
    19. Oxford English Dictionary, 1st edn, s.v. hermaphrodite, n. and adj.; "Online Etymology Dictionary". Retrieved 3 June 2012.
    20. "DoD Instruction 6130.03 Medical Standards For Appointment, Enlistment, Or Induction Into The Military Services" (PDF). September 27, 2018. Archived from the original (PDF) on 2018-09-27 – via Wayback Machine.
    21. "AIC's Landmark Lawsuit Makes History!". AIC. May 16, 2013. Archived from the original on February 6, 2017.
    22. 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.
    23. Reis, Elizabeth (May 17, 2013). "Do No Harm: Intersex Surgeries and the Limits of Certainty". Nursing Clio. Retrieved 2015-07-20.
    24. Dreger, Alice (May 16, 2013). "When to Do Surgery on a Child With 'Both' Genitalia". The Atlantic. Retrieved 2015-07-20.
    25. White, Ryan L. (2013). "Preferred Private Parts: Importing Intersex Autonomy for M.C. v. Aaronson". Fordham International Law Journal. 37: 777.
    26. Sesana, Laura (May 18, 2013). "Adoptive parents sue over son's sex-assignment surgery". Archived from the original on May 22, 2013.
    27. 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. PMID 11436003.
    28. Largent, Emily (March 5, 2015). "M.C. v. Aaronson". Petrie-Flom Center, Harvard Law.
    29. 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.
    30. 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
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