Pseudohermaphroditism

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Pseudohermaphroditism
Other namesPseudo-hermaphroditism
Specialty Gynecology, endocrinology

Pseudohermaphroditism is a condition in which an individual has a matching chromosomal and gonadal tissue (ovary or testicle) sex, but mismatching external genitalia.

Contents

Female pseudohermaphroditism refers to an individual with ovaries and external genitalia resembling those of a male. Male pseudohermaphroditism refers to an individual with testicles and external genitalia resembling those of a female. [1] [2] In some cases, external sex organs associated with pseudohermaphroditism appear intermediate between a typical clitoris and penis. Thus, pseudohermaphroditism is sometimes not identified until puberty or adulthood.

The term contrasts with true hermaphroditism, a condition describing an individual with both female and male reproductive organs.

Associated conditions include 5-α-reductase deficiency and androgen insensitivity syndrome.

Mechanism

Sex is determined by chromosomes during fertilization. In the early stages of human development, a human embryo has the precursors of female (paramesonephric or Müllerian ducts) and male (mesonephric ducts or Wolffian) gonads. [3] If a Y chromosome is lacking, or defective as seen in Swyer syndrome, the embryo will reabsorb the mesonephric ducts and proceed with paramesonephric ducts, which give rise to ovaries. The Y chromosome contains a sex-determining region called the SRY gene. Thus, the developmental plan of the embryo is altered only if this gene is present and functional. [4]

Mutations affecting the androgen receptor (AR) gene may cause either complete or partial androgen insensitivity syndrome. Androgens are a group of hormones which regulate the development and maintenance of male characteristics. Between 8 and 12 weeks, human male fetuses become externally distinct as androgens enlarge the phallus and produce a penis with a urethra and scrotum. [5]

Persistent Müllerian duct syndrome is a form of pseudohermaphroditism, developed through Müllerian-inhibiting factor defects. In such instances, duct derivatives are present in males, including the uterus, fallopian tubes, and upper vagina. [6]

Management

Surgery is sometimes performed to alter the appearance of the genitals. Sex-specific cancers present on the gonads may require surgical removal. [7] [8] [9] [10]

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. [11]

Other animals

Narave pigs, which are native to Malo Island, Vanuatu, are pseudohermaphrodite male domestic pigs that are kept for ceremonial purposes. [12] [13] [14]

Terminology

The term "Pseudohermaphroditimus" (pseudohermaphroditism) was coined in German by Edwin Klebs in 1876. [15] [16] Klebs had included the term as a synonym for the earlier coined, "spurious hermaphroditism" (which he referred to as Schein-Zwitter in German). [16] "Spurious hermaphroditism" was coined in 1836 by J. Y. Simpson. [17]

Although "pseudohermaphroditism" persisted in the International Classification of Diseases, Versions 9 (ICD-9) and 10 (ICD-10) as 752.7 (Indeterminate sex and pseudohermaphroditism) [18] and Q56 (Interdeterminate sex and pseudohermaphroditism), [19] it has since been removed in the eleventh version (ICD-11), in favor of LD2A.Y (Other specified malformative disorders of sex development). [20]

Some experts have indicated that both pseudohermaphroditism (also called false hermaphroditism) and true hermaphroditism are outdated, [21] [22] [23] [24] [25] [26] confusing, [23] [27] and potentially pejorative, [23] [26] [27] [28] [29] indicating replacement with "disorders of sex development", "disorders of sexual development", "differences of sex development" (all abbreviated as DSD) [21] [23] [26] or "intersex". [22] [29]

Additionally, intersex activists have noted that: "The qualifiers 'pseudo' and 'true' are even more harmful [than hermaphrodite on its own], because they imply a sort of authenticity, or lack of same, that carry powerful emotional baggage". [30] Dreger et al had also noted that "division of many intersex types into true hermaphroditism, male pseudohermaphroditism, and female pseudohermaphroditism is scientifically specious and clinically problematic". [31]

See also

Related Research Articles

<span class="mw-page-title-main">5α-Reductase 2 deficiency</span> Medical condition

5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2 (5αR2). The condition is rare, affects only genetic males, and has a broad spectrum.

<span class="mw-page-title-main">Androgen insensitivity syndrome</span> Medical condition

Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction.

<span class="mw-page-title-main">XY gonadal dysgenesis</span> Medical condition

XY gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, the person has functionless gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty. The cause is a lack or inactivation of an SRY gene which is responsible for sexual differentiation. Pregnancy is often possible in Swyer syndrome with assisted reproductive technology. The phenotype is usually similar to Turner syndrome (45,X0) due to a lack of X inactivation. The typical medical treatment is hormone replacement therapy. The syndrome was named after Gerald Swyer, an endocrinologist based in London.

<span class="mw-page-title-main">Paramesonephric duct</span> Paired ducts in the embryo in the primitive urogenital structures

The paramesonephric ducts are paired ducts of the embryo in the female reproductive system that run down the lateral sides of the genital ridge and terminate at the sinus tubercle in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, cervix, and the upper one-third of the vagina.

<span class="mw-page-title-main">Intersex medical interventions</span> Performed to modify atypical or ambiguous genitalia

Intersex medical interventions, also known as intersex genital mutilations (IGM), are surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primarily for the purposes of making a person's appearance more typical and to reduce the likelihood of future problems. The history of intersex surgery has been characterized by controversy due to reports that surgery can compromise sexual function and sensation, and create lifelong health issues. Timing, evidence, necessity and indications for surgeries in infancy, adolescence or adult age have been controversial, associated with issues of consent.

<span class="mw-page-title-main">Persistent Müllerian duct syndrome</span> Medical condition

Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives in what would be considered a genetically and otherwise physically normal male animal by typical human based standards. In humans, PMDS typically is due to an autosomal recessive congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of Müllerian derivatives.

<span class="mw-page-title-main">Male reproductive system</span> Reproductive system of the human male

The male reproductive system consists of a number of sex organs that play a role in the process of human reproduction. These organs are located on the outside of the body, and within the pelvis.

<span class="mw-page-title-main">XX male syndrome</span> Congenital condition where an individual with a 46,XX karyotype has male characteristics

XX male syndrome, also known as de la Chapelle syndrome, is a rare congenital intersex condition in which an individual with a 46,XX karyotype has phenotypically male characteristics that can vary among cases. Synonyms include 46,XX testicular difference of sex development, 46,XX sex reversal, nonsyndromic 46,XX testicular DSD, and XX sex reversal.

<span class="mw-page-title-main">Ovotesticular syndrome</span> Intersex condition including both ovarian and testicular tissue

Ovotesticular syndrome is a term for 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. Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically.

<span class="mw-page-title-main">Gonadal dysgenesis</span> Congenital disorder of the reproductive system

Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in humans. It is atypical development of gonads in an embryo,. One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.

<span class="mw-page-title-main">Partial androgen insensitivity syndrome</span> Medical condition

Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens. It is an X linked recessive condition. The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in individuals with a Y chromosome. Clinical features include ambiguous genitalia at birth and primary amenhorrhoea with clitoromegaly with inguinal masses. Müllerian structures are not present in the individual.

<span class="mw-page-title-main">Sexual differentiation in humans</span> Process of development of sex differences in humans

Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. Sexual differentiation includes development of different genitalia and the internal genital tracts and body hair plays a role in sex identification.

<span class="mw-page-title-main">Disorders of sex development</span> Medical conditions involving the development of the reproductive system

Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical.

<span class="mw-page-title-main">Complete androgen insensitivity syndrome</span> Intersex condition that results in a phenotypic female

Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives. The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does allow, without significant impairment, female genital and sexual development in those with the condition.

<span class="mw-page-title-main">Intersex</span> Atypical congenital variations of sex characteristics

Intersex people are individuals born with any of several sex characteristics including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical binary notions of male or female bodies".

<span class="mw-page-title-main">Leydig cell hypoplasia</span> Medical condition

Leydig cell hypoplasia (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive genetic and endocrine syndrome affecting an estimated 1 in 1,000,000 genetic males. It is characterized by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signaling Leydig cells of the testicles to produce testosterone and other androgen sex hormones. The condition manifests itself as pseudohermaphroditism, hypergonadotropic hypogonadism, reduced or absent puberty, and infertility.

45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. Mosaic loss of the Y chromosome in previously non-mosaic men grows increasingly common with age.

WNT4 deficiency is a rare genetic disorder that affects females and it results in the underdevelopment and sometimes absence of the uterus and vagina. WNT4 deficiency is caused by mutations of the WNT4 gene. Abnormally high androgen levels are found in the blood and can initiate and promote the development of male sex characteristics. This is seen as male pattern of hair growth on the chest and face. Those with this genetic defect develop breasts but do not have their period. Mayer–Rokitansky–Küster–Hauser syndrome is a related but distinct syndrome. Some women who have an initial diagnosis of MRKH have later been found to have WNT4 deficiency. Most women with MRKH syndrome do not have genetic mutations of the WNT4 gene. The failure to begin the menstrual cycle may be the initial clinical sign of WNT4 deficiency. WNT4 deficiency can cause significant psychological challenges and counseling is recommended.

<span class="mw-page-title-main">United States partial military ban on intersex people</span> United States military ban on some intersex people

The (DoDI) 6130.03, 2018, section 5, 13f and 14m is the writing which bars persons with "true hermaphroditism", "pseudohermaphroditism" and "pure gonadal dysgenesis" from serving in the United States Armed Forces. The three are all intersex conditions and are as of now considered to be medically incompatible with military service in the United States. "DoDI" stands for "Department of Defense Instruction," the 6130.03 instruction concerns "Medical Standards for Appointment, Enlistment, or Induction in the Military Services" in the Armed Forces of the United States. Section 5 focuses on disqualifying conditions of the male and female reproductive system, on the female page the subheader 13 and paragraph f name true hermaphroditism, pseudohermaphroditism and pure gonadal dysgenesis specifically, and on the male page the subheader 14 and paragraph m also name exactly true hermaphroditism, pseudohermaphroditism and pure gonadal dysgenesis, respectively. There is no differentiation made between males and females with these conditions. Many doctors, medical professionals and intersex advocates find the terms hermaphroditism to be outdated and stigmatized, therefore it and its derivative words are seldom used in the 2000s, with the word hermaphrodite itself being considered a slur when used against a human.

Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation. Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). Afterwards, if the family or individual wishes, they can partake in different management and treatment options for their conditions.

References

  1. ↑ "Pseudohermaphroditism | pathology". Encyclopedia Britannica. Retrieved 2021-07-03.
  2. ↑ Michiels I, Peperstraete L, De Wever I, Gruwez JA (July 1984). "Inguinal hernia repair leading to the diagnosis of internal male pseudohermaphroditism". Acta Chirurgica Belgica. 84 (4): 255–258. PMID   6485686.
  3. ↑ Wilson D, Bordoni B (2021). "Embryology, Mullerian Ducts (Paramesonephric Ducts)". StatPearls. PMID   32491659.
  4. ↑ "SRY gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-07-03.
  5. ↑ Celayir A, Moralioglu S, Cetiner H, Kir G, Celayir S (2019). "Expression of androgen, estrogen, and progesterone hormone receptors in the penile tissues of children with different types of hypospadias". Northern Clinics of Istanbul. 6 (2): 110–116. PMC   6593914 . PMID   31297475.
  6. ↑ 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): 460–462. doi:10.1007/s12262-013-0831-6. PMC   3693295 . PMID   24426648.
  7. ↑ "Female Pseudohermaphroditism - an overview | ScienceDirect Topics". www.sciencedirect.com. Retrieved 2021-07-03.
  8. ↑ Quattrin T, Aronica S, Mazur T (December 1990). "Management of male pseudohermaphroditism: a case report spanning twenty-one years". Journal of Pediatric Psychology. 15 (6): 699–709. doi:10.1093/jpepsy/15.6.699. PMID   2283575.
  9. ↑ Hughes IA, Williams DM, Batch JA, Patterson MN (1992). "Male pseudohermaphroditism: clinical management, diagnosis and treatment". Hormone Research. 38 (2): 77–81. doi:10.1159/000182604. PMID   1292987.
  10. ↑ Boczkowski K (1974-01-01). "Management and Treatment of Male Pseudohermaphrodites". The Endocrine Function of the Human Testis: 247–256. doi:10.1016/B978-0-12-380102-9.50019-6. ISBN   9780123801029.
  11. ↑ Money JW (1952). Hermaphroditism: An inquiry into the nature of a human paradox (PhD thesis). Harvard University. OCLC   81648824.[ page needed ]
  12. ↑ Lum JK, McIntyre JK, Greger DL, Huffman KW, Vilar MG (November 2006). "Recent Southeast Asian domestication and Lapita dispersal of sacred male pseudohermaphroditic "tuskers" and hairless pigs of Vanuatu". Proceedings of the National Academy of Sciences of the United States of America. 103 (46): 17190–17195. Bibcode:2006PNAS..10317190L. doi: 10.1073/pnas.0608220103 . PMC   1859908 . PMID   17088556.
  13. ↑ "Intersex Pigs". Southwest Pacific Research Project. Retrieved 2023-03-07.
  14. ↑ "Pigs in Paradise". Penn State University. Retrieved 2023-03-07.
  15. ↑ Zucker KJ (1999). "Intersexuality and gender identity differentiation". Annual Review of Sex Research. 10: 1–69. doi:10.1080/10532528.1999.10559774 (inactive 31 January 2024). PMID   10895247.{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link)
  16. 1 2 Klebs, T. A. E. (1876). Handbuch der pathologischen Anatomie [Handbook of pathological anatomy]. Berlin: A. Hirschwald, p. 723.
  17. ↑ Simpson, J. Y. (1836). "Hermaphroditism" in The Cyclopaedia of Anatomy and Physiology. Vol. 2. p. 685.
  18. ↑ "2012 ICD-9-CM Diagnosis Code 752.7 : Indeterminate sex and pseudohermaphroditism" . Retrieved 2022-03-03.
  19. ↑ "2022 ICD-10-CM Diagnosis Code Q56* : Indeterminate sex and pseudohermaphroditism" . Retrieved 2022-03-03.
  20. ↑ "ICD-11 for Mortality and Morbidity Statistics (Version: 02/2022) : LD2A.Y Other specified malformative disorders of sex development" . Retrieved 2022-03-03.
  21. 1 2 Mehmood, K. T.; Rentea, R. M. (2023). "Ambiguous Genitalia And Disorders of Sexual Differentiation". PMID   32491367 . Retrieved 2022-03-03.
  22. 1 2 "Intersex: MedlinePlus Medical Encyclopedia" . Retrieved 2022-03-03.
  23. 1 2 3 4 Kim KS, Kim J (January 2012). "Disorders of sex development" (PDF). Korean Journal of Urology. 53 (1): 1–8. doi:10.4111/kju.2012.53.1.1. PMC   3272549 . PMID   22323966.
  24. ↑ Amato V (2016). Intersex Narratives: Shifts in the Representation of Intersex Lives in North American Literature and Popular Culture. Bielefeld: Transcript Verlag. ISBN   978-3-8394-3419-2.
  25. ↑ Reis E (2007). "Divergence or disorder?: the politics of naming intersex" (PDF). Perspectives in Biology and Medicine. 50 (4): 535–43. doi:10.1353/pbm.2007.0054. PMID   17951887. S2CID   17398380.
  26. 1 2 3 Hughes IA (February 2008). "Disorders of sex development: a new definition and classification". Best Practice & Research. Clinical Endocrinology & Metabolism. 22 (1): 119–134. doi:10.1016/j.beem.2007.11.001. PMID   18279784.
  27. 1 2 Houk CP, Hughes IA, Ahmed SF, Lee PA (August 2006). "Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference". Pediatrics. 118 (2): 753–757. doi:10.1542/peds.2006-0737. PMID   16882833. S2CID   46508895.
  28. ↑ Kovacs CS, Deal C (12 October 2019). Maternal-Fetal and Neonatal Endocrinology: Physiology, Pathophysiology, and Clinical Management, p. 841. Academic Press. ISBN   9780128148242 . Retrieved 2022-03-03.
  29. 1 2 "Affirming Primary Care for Intersex People, 2020" (PDF). Retrieved 2022-03-03.
  30. ↑ "On the Word Hermaphrodite - Intersex Society of North America" . Retrieved 2022-03-03.
  31. ↑ Dreger AD, Chase C, Sousa A, Gruppuso PA, Frader J (August 2005). "Changing the nomenclature/taxonomy for intersex: a scientific and clinical rationale". Journal of Pediatric Endocrinology & Metabolism. 18 (8): 729–733. doi:10.1515/jpem.2005.18.8.729. PMID   16200837. S2CID   39459050.
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