Androgen insensitivity syndrome: Report of 4 cases

Journal Title: Medpulse International Journal of Pathology - Year 2017, Vol 3, Issue 2

Abstract

Androgen insensitivity syndrome (AIS), formerly known as testicular feminization syndrome, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. The disease is the result of an end-organ resistance to androgens caused by an abnormality in androgen receptors, which may be absent or which may display quantitative or qualitative abnormalities. Occasionally, there is a post receptor abnormality. Three different phenotypic presentations of are i) Complete androgen insensitivity syndrome ii) Partial androgen insensitivity syndrome and iii)Mild androgen insensitivity syndrome. In the complete form, there is no androgen response, therefore normal external female genitalia develop and these infants are reared as females. There may be labial or inguinal swellings which contain testis. These patients most often present in late adolescence with primary amenorrhoea. There is absence of uterus and ovaries on ultrasound scan or laparoscopy. Vagina is short, develops from urogenital sinus only and ends blindly. We here present 4 cases of AIS presenting with inguinal or labial swellings.

Authors and Affiliations

Jaydeep N Pol, Arun G Gujar, Vinayak S Joshi, Yogeshri A Chougule, Madhura D Phadke, Yash R Kale

Keywords

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  • EP ID EP260026
  • DOI -
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How To Cite

Jaydeep N Pol, Arun G Gujar, Vinayak S Joshi, Yogeshri A Chougule, Madhura D Phadke, Yash R Kale (2017). Androgen insensitivity syndrome: Report of 4 cases. Medpulse International Journal of Pathology, 3(2), 44-46. https://europub.co.uk/articles/-A-260026