True hermaphroditism

Ovotesticular syndrome
Other namesDiseasesDB = 29664
This condition is inherited in an autosomal recessive manner
SpecialtyObstetrics and gynaecology, endocrinology 
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True hermaphroditism, sometimes referred to as ovotesticular syndrome,[1][2] is an intersex condition in which an individual is born with both ovarian and testicular tissue. Commonly, one or both gonads is an ovotestis containing both types of tissue.[3]

Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically.[4]

Symptoms

History

The first medical attempts to document cases appeared in the 16th century. Up until the Late Middle Ages individuals with these conditions were viewed as monsters.[6]

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.[7]

Karyotypes

In ovotesticular syndrome, XX is the most common (55-80% of cases); most individuals with this form are SRY negative.[8]

Next most common are XX/XY (20-30% of cases) and XY (5-15% of cases), with the remainder being a variety of other chromosomal anomalies and mosaicisms.[9][8]

Some degree of mosaicism is present in about 25%.[8]

Encountered karyotypes include 46XX/46XY, or 46XX/47XXY or XX & XY with SRY mutations, mixed chromosomal anomalies or hormone deficiency/excess disorders, 47XXY.

Less than 1% have XX/XY chimerism.[8]

Prevalence

True hermaphroditism represents 5% of all syndromes of sex development.[10] Estimated frequency of ovotestes is one in 83,000 births (0.0012%).[11]

The exact number of confirmed cases is uncertain, but by 1991 approximately 500 cases had been confirmed.[12]

It has also been estimated that more than 525 have been documented.[6]

96% of cases have been reported in Africa.[13]

Fertility

The gonad most likely to function is the ovary.[13] The ovotestes show evidence of ovulation in 50% of cases.[14] Spermatogenesis has only been observed in solitary testes and not in the testicular portions of ovotestes.[15][14] According to a 1994 study, spermatogenesis has only been proven in two cases.[16]

Spermatogenesis is never present in cases with XX.[13] It has been estimated that 80% of cases could be fertile as females with the right surgeries.[6]

Documented cases of fertility

There are extremely rare cases of fertility in "truly hermaphroditic" humans.[16][17]

In 1994 a study on 283 cases found 21 pregnancies from 10 true hermaphrodites, while one allegedly fathered a child.[16]

As of 2010, there have been at least 11 reported cases of fertility in true hermaphrodite humans in the scientific literature,[4] with one case of a person with XY-predominant (96%) mosaic giving birth.[18] However, there have been no documented cases of individuals being fertile as males.[6][13]

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 self-fertilization is feasible. Indeed, it is known to occur in non-human species where hermaphroditic animals are common.[19] However, no such case of functional self-fertilization or true bisexuality has been documented in humans.[15][10]

Etymology

The term derives from the Latin: hermaphroditus, from Ancient Greek: ἑρμαφρόδιτος, romanized: hermaphroditos,[20] 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;[21] according to the earlier Diodorus Siculus, he was born with a physical body combining both sexes.[22] Usage of the term dates back to the third century BC.[6] The word hermaphrodite entered the English lexicon in the late fourteenth century.[23]

Society and culture

Having ovotesticular syndrome of sexual development can make one inadmissible for service in the United States Armed Forces.[24]

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.[25][26][27][28] 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.[29] 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.[29] 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."[26][30] 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".[31][29]

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."[32] The Court did not rule on whether or not the surgery violated M.C.'s constitutional rights.[33]

State suits were subsequently filed.[32] 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."[34]

See also

  • 46,XX/46,XY
  • Intersex people and military service in the United States

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ "ovo-testes (formerly called true hermaphroditism) | Intersex Society of North America". isna.org. Retrieved 2020-09-08.
  4. 1 2 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.
  5. ↑ Mancino, Anne T.; Young, Zachary T.; Bland, Kirby I. (2018-01-01). "Gynecomastia". The Breast: 104–115.e5. doi:10.1016/B978-0-323-35955-9.00007-6. ISBN 9780323359559.
  6. 1 2 3 4 5 Wynbrandt, James; Ludman, Mark D. (2010-05-12). The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing. ISBN 978-1-4381-2095-9.
  7. ↑ 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.
  8. 1 2 3 4 Al-Salem, Ahmed H. (2020), Al-Salem, Ahmed H. (ed.), "Ovotestis Disorders of Sexual Development", Pediatric Gynecology: An Illustrated Guide for Surgeons, Cham: Springer International Publishing, pp. 469–478, doi:10.1007/978-3-030-49984-6_24, ISBN 978-3-030-49984-6, retrieved 2021-04-23
  9. ↑ 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
  10. 1 2 Ceci, Michelle; Calleja, Edward; Said, Edith; Gatt, Noel (2015-02-03). "A Case of True Hermaphroditism Presenting as a Testicular Tumour". Case Reports in Urology. 2015: 598138. doi:10.1155/2015/598138. PMC 4333191. PMID 25774314.
  11. ↑ "ISNA - How common is intersex?". www.isna.org. Retrieved 2019-05-09.
  12. ↑ Nistal, Manuel; Paniagua, Ricardo; González-Peramato, Pilar; Reyes-Múgica, Miguel (2015-09-01). "Perspectives in Pediatric Pathology, Chapter 7. Ovotesticular DSD (True Hermaphroditism)". Pediatric and Developmental Pathology. 18 (5): 345–352. doi:10.2350/14-04-1466-PB.1. ISSN 1093-5266. PMID 25105460. S2CID 34009652.
  13. 1 2 3 4 Hutson, John M.; Warne, Garry L.; Grover, Sonia R. (2012-02-02). Disorders of Sex Development: An Integrated Approach to Management. Springer Science & Business Media. pp. 84–85. ISBN 978-3-642-22963-3.
  14. 1 2 Bhattacharya, Niranjan; Stubblefield, Phillip G. (2016-05-17). Human Fetal Growth and Development: First and Second Trimesters. Springer. ISBN 978-3-319-14874-8.
  15. 1 2 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.
  16. 1 2 3 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.
  17. ↑ 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.
  18. ↑ 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.
  19. ↑ 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.
  20. ↑ "Definition of hermaphroditus". Numen: The Latin Lexicon. Retrieved 19 July 2013.
  21. ↑ Ovid, Metamorphoses, Book IV: The story of Hermaphroditus and Salmacis.
  22. ↑ Diodorus Siculus — Book IV Chapters 1–7
  23. ↑ Oxford English Dictionary, 1st edn, s.v. hermaphrodite, n. and adj.; "Online Etymology Dictionary". Retrieved 3 June 2012.
  24. ↑ "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.
  25. ↑ "AIC's Landmark Lawsuit Makes History!". AIC. May 16, 2013. Archived from the original on February 6, 2017.
  26. 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.
  27. ↑ Reis, Elizabeth (May 17, 2013). "Do No Harm: Intersex Surgeries and the Limits of Certainty". Nursing Clio. Retrieved 2015-07-20.
  28. ↑ Dreger, Alice (May 16, 2013). "When to Do Surgery on a Child With 'Both' Genitalia". The Atlantic. Retrieved 2015-07-20.
  29. 1 2 3 White, Ryan L. (2013). "Preferred Private Parts: Importing Intersex Autonomy for M.C. v. Aaronson". Fordham International Law Journal. 37: 777.
  30. ↑ Sesana, Laura (May 18, 2013). "Adoptive parents sue over son's sex-assignment surgery". Archived from the original on May 22, 2013.
  31. ↑ 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.
  32. 1 2 Largent, Emily (March 5, 2015). "M.C. v. Aaronson". Petrie-Flom Center, Harvard Law.
  33. ↑ 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.
  34. ↑ 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.
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