Partial androgen insensitivity syndrome

Partial androgen insensitivity syndrome
Other namesPartial androgen resistance syndrome; Reifenstein syndrome
AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body.
SpecialtyEndocrinology Edit this on Wikidata

Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens.[1][2][3] 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.[3][4] As such, the insensitivity to androgens is clinically significant only when it occurs in individuals with a Y chromosome (or more specifically, an SRY gene).[1] Clinical features include ambiguous genitalia at birth and primary amenhorrhoea with clitoromegaly with inguinal masses. Müllerian structures are not present in the individual.

PAIS is one of three types of androgen insensitivity syndrome, which is divided into three categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS) is indicated when the external genitalia is that of a typical female, mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia is that of a typical male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia is partially, but not fully masculinized.[1][2][5][6][7][8][9][10][11] Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinization.[12] PAIS has a similar presentation and is difficult to distinguish from 5α-reductase type 2 deficiency, especially before puberty.[13][14][15]

There are differing opinions on whether treatment is necessary. Treatment may include irreversible and far reaching surgical operations such as gonadectomy, as well as hormone replacement therapy, or vaginoplasty if the patient has desire to engage in penetrative sex.

  1. ^ a b c Cite error: The named reference 2006 hughes 20 was invoked but never defined (see the help page).
  2. ^ a b Cite error: The named reference 2008 galani 7 was invoked but never defined (see the help page).
  3. ^ a b Cite error: The named reference 1995 quigley 16 was invoked but never defined (see the help page).
  4. ^ Cite error: The named reference 2002 giwercman 87 was invoked but never defined (see the help page).
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  7. ^ Cite error: The named reference 2009 stouffs 15 was invoked but never defined (see the help page).
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  9. ^ Cite error: The named reference 2007 davis-dao 92 was invoked but never defined (see the help page).
  10. ^ Cite error: The named reference 2005 kawate 90 was invoked but never defined (see the help page).
  11. ^ Cite error: The named reference 2005 gottlieb 10 was invoked but never defined (see the help page).
  12. ^ Cite error: The named reference 1999 ahmed 80 was invoked but never defined (see the help page).
  13. ^ Maimoun L, Philibert P, Cammas B, Audran F, Pienkowski C, Kurtz F, et al. (December 2010). "Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations". International Journal of Andrology. 33 (6): 841–847. doi:10.1111/j.1365-2605.2009.01036.x. PMID 20132346.
  14. ^ Veiga-Junior NN, Medaets PA, Petroli RJ, Calais FL, de Mello MP, Castro CC, et al. (12 December 2011). "Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency". International Journal of Endocrinology. 2012: 964876. doi:10.1155/2012/964876. PMC 3238364. PMID 22194745.
  15. ^ Han B, Zhu H, Yao H, Ren J, O'Day P, Wang H, et al. (March 2022). "Differences of adrenal-derived androgens in 5α-reductase deficiency versus androgen insensitivity syndrome". Clinical and Translational Science. 15 (3): 658–666. doi:10.1111/cts.13184. PMC 8932821. PMID 34755921.