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Androgen Insensitivity Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1953, Morris (Morris 1953) described the clinical phenotype of “testicular feminization” after reviewing 82 cases. Morris’s phenotype included a female body habitus with normal breast development, minimal pubic and axillary hair, and typically absent or rudimentary vagina or absent uterus. The term “testicular feminization syndrome” was based on the observation of the complete absence of signs of virilization in phenotypic females with testes and a 46,XY karyotype. The change in nomenclature from testicular feminization to androgen insensitivity syndrome (AIS) was prompted by the finding of normal urinary 17-ketosteroid levels, an androgen metabolite, as well as by the absence of treatment effect when 46,XY women were treated with methyl testosterone, suggesting androgen resistance rather than a deficiency (Wilkins 1950; Speroff and Fritz 2005; Oakes et al. 2009).

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References

  • Aittomaki, K., Eroila, H., & Kajanoja, P. (2001). A population-based study of the incidence of mullerian aplasia in Finland. Fertility and Sterility, 76, 624–625.

    Article  PubMed  CAS  Google Scholar 

  • Bangsboll, S., Qvist, I., Lebech, P. E., et al. (1992). Testicular feminization syndrome and associated gonadal tumors in Denmark. Acta Obstetricia et Gynecologica Scandinavica, 71, 63–66.

    Article  PubMed  CAS  Google Scholar 

  • Bianca, S., Cataliotti, A., Bartoloni, G., et al. (2009). Prenatal diagnosis of androgen insensitivity syndrome. Fetal Diagnosis and Therapy, 26, 167–169.

    Article  PubMed  CAS  Google Scholar 

  • Boehmer, A. L. M., Brinkmann, A. O., Niermeijer, M. F., et al. (1997). Germ-line and somatic mosaicism in the androgen insensitivity syndrome: Implications for genetic counseling. American Journal of Human Genetics, 60, 1003–1006.

    PubMed  CAS  PubMed Central  Google Scholar 

  • Boehmer, A. L. M., Bruggenwirth, H., Assendelft, C. V., et al. (2001). Genotype versus phenotype in families with androgen insensitivity syndrome. Journal of Clinical Endocrinology and Metabolism, 86, 4151–4160.

    Article  PubMed  CAS  Google Scholar 

  • Davies, H. R., Hughes, I. A., & Patterson, M. N. (1995). Genetic counselling in complete androgen. insensitivity syndrome – Trinucleotide repeat polymorphisms, single strand conformational polymorphisms and direct detection of 2 novel mutations in the androgen receptor gene. Clinical Endocrinology (Oxford), 43, 69–77.

    Article  CAS  Google Scholar 

  • Deeb, A., & Hughes, I. A. (2005). Inguinal hernia in female infants: A cue to check the sex chromosomes? BJU International, 96, 401–403.

    Article  PubMed  Google Scholar 

  • Evans, B. A., Hughes, I. A., Bevan, C. L., et al. (1997). Phenotypic diversity in siblings with partial androgen insensitivity syndrome. Archives of Disease in Childhood, 76, 529–531.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Gans, S., & Rubin, C. L. (1962). Apparent females with hernias and testes. American Journal of Diseases of Children, 104, 82–86.

    Article  PubMed  CAS  Google Scholar 

  • Gottlieb, B., Beitel, L. K., Lumbroso, R., et al. (1999a). Update of the androgen receptor gene mutations database. Human Mutation, 14, 103–114.

    Article  PubMed  CAS  Google Scholar 

  • Gottlieb, B., Pinsky, L., Beitel, L. K., et al. (1999b). Androgen insensitivity. American Journal of Medical Genetics (Seminars in Medical Genetics), 89, 210–217.

    Article  CAS  Google Scholar 

  • Gottlieb, B., Beitel, L. K., Triffiro, M. A. (2014). Androgen insensitivity syndrome. Gene Reviews, Updated 10 July 2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1429/

  • Hiort, O., Sinnecker, G. H. G., Holterhus, P.-M., et al. (1998). Inherited and de novo androgen receptor gene mutations investigation of single-case families. Journal of Pediatrics, 132, 939–943.

    Article  PubMed  CAS  Google Scholar 

  • Holterhus, P. M., Bruggenwirth, H. T., & Hiort, O. (1997). Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. Journal of Clinical Endocrinology and Metabolism, 82, 3584–3589.

    PubMed  CAS  Google Scholar 

  • Hughes, I. A., & Deeb, A. (2006). Androgen resistance. Best Practice & Research. Clinical Endocrinology & Metabolism, 20, 577–598.

    Article  CAS  Google Scholar 

  • Hughes, I. A., & Patterson, M. N. (1994). Prenatal diagnosis of androgen insensitivity. Clinical Endocrinology, 40, 295–296.

    Article  PubMed  CAS  Google Scholar 

  • Hughes, I. A., Davies, J. D., Bunch, T. I., et al. (2012). Androgen insensitivity syndrome. Lancet, 380, 1419–1428.

    Article  PubMed  CAS  Google Scholar 

  • Jääskeläinen, J. (2012). Molecular biology of androgen insensitivity. Molecular and Cellular Endocrinology, 352, 4–12.

    Article  PubMed  Google Scholar 

  • Lubahn, D. B., Joseph, D. R., Sullivan, P. M., et al. (1988). Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science, 240, 327–330.

    Article  PubMed  CAS  Google Scholar 

  • Mazza, V., Bertucci, E., Latella, S., et al. (2013). Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome. Case Reports in Obstetrics and Gynecology, 2013, 1–3.

    Article  Google Scholar 

  • Mendoza, N., & Motos, M. A. (2013). Androgen insensitivity syndrome. Gynecolgical Endocrinology, 29, 1–5.

    Article  CAS  Google Scholar 

  • Morris, J. M. (1953). The syndrome of feminization in male pseudohermaphrodites. American Journal of Obstetrics and Gynecology, 65, 1192–1211.

    PubMed  CAS  Google Scholar 

  • Nielsen, D. F., & Bulow, S. (1976). The incidence of male hermaphroditism in girls with inguinal hernia. Surgery, Gynecology & Obstetrics, 142, 875–876.

    CAS  Google Scholar 

  • Nunes, E., Rodrigues, C., Geraldes, F., et al. (2014). Differentiating Swyer syndrome and complete androgen insensitivity syndrome: A diagnostic dilemma. Pediatric Adolescent Gynecology, 27, e67–e68.

    Article  Google Scholar 

  • Oakes, M. B., Eyvazzadeh, A. D., & Quint, E. (2008). Complete androgen insensitivity syndrome – A review. Journal of Pediatric and Adolescent Gynecology, 21, 305–310.

    Article  PubMed  Google Scholar 

  • Rutgers, J. L., & Scully, R. E. (1991). The androgen insensitivity syndrome (testicular feminisation): A clinicopathological study of 43 cases. International Journal of Gynecological Pathology, 10, 126–144.

    Article  PubMed  CAS  Google Scholar 

  • Sarpel, U. (2005). The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement. Journal of Pediatric Surgery, 40, 133–137.

    Article  PubMed  Google Scholar 

  • Speroff, L., & Fritz, M. (2005). Clinical gynecologic endocrinology and infertility (7th ed., pp. 421–423). Philadelphia: Williams & Williams.

    Google Scholar 

  • Viner, R. M., Teoh, Y., Williams, D. M., Patterson, M. N., Hughes, I. A., et al. (1997). Androgen insensitivity syndrome: A survey of diagnostic procedures and management in the UK. Archives of Disease in Childhood, 77, 305–309.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Wilkins, L. (1950). The diagnosis and treatment of endocrine disorders in childhood and adolescence (pp. 256–279). Springfield: Charles C. Thomas.

    Google Scholar 

  • Yu, P., Qi, M., & Jin, F. (2012). Preimplantation and prenatal genetic diagnosis for androgen insensitivity syndrome resulting from a novel deletion/insertion mutation. Clinical Genetics, 82, 295–296.

    Article  PubMed  CAS  Google Scholar 

  • Zilberman, D., Parikh, L. I., Skinner, M., et al. (2015). Prenatal diagnosis of androgen insensitivity syndrome using cell-free fetal DNA testing. Ultrasound in Obstetrics & Gynecology, 45, 112–116.

    Article  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2015). Androgen Insensitivity Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_12-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_12-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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