Androgen insensitivity syndrome screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]

Overview

The diagnosis of AIS (androgen insensitivity syndrome) is mostly made post-natally. Studies have shown that the AIS may be identified prenatally by imaging techniques and comparative study such as such as preimplantation genetic screening, noninvasive prenatal screening and ultrasonography. In prepubertal girls with inguinal swellings, screening for CAIS should be considered.

Screening

  • The diagnosis of AIS (androgen insensitivity syndrome) is mostly made postnatally. But, in a study which diagnosed mid-second trimester fetus with thick nuchal translucency (NT)/nuchal fold (NF) and short limbs was likely to be AIS. Hence, appearance of fetal sex on ultrasound should be compared with genetic sex. [1]
  • With increased use, discordance among prenatal testing modalities such as preimplantation genetic screening, noninvasive prenatal screening and ultrasonography will become more common requiring expert navigation to identify true pathology.[2]
  • In prepubertal girls with inguinal swellings, screening for CAIS (complete androgen insensitivity syndrome)should be considered. [3]

References

  1. Yalinkaya A, Yayla M, Erdemoglu M (2007). "Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS)". Prenat. Diagn. 27 (9): 856–7. doi:10.1002/pd.1747. PMID 17605153.
  2. Franasiak JM, Yao X, Ashkinadze E, Rosen T, Scott RT (2015). "Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis". Obstet Gynecol. 125 (2): 383–6. doi:10.1097/AOG.0000000000000503. PMID 25569013.
  3. Konar S, Dasgupta D, Patra DK, De A, Mallick B (2015). "Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome". J Clin Diagn Res. 9 (4): GD01–3. doi:10.7860/JCDR/2015/11411.5750. PMC 4437084. PMID 26023570.



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