A Case of Mistaken Identity: Complete Androgen Insensitivity Syndrome

Authors: Moores, Penelope¹; Rashid, Mumtaz¹

Source: Ultrasound, Volume 17, Number 3, August 2009 , pp. 153-155(3)

Publisher: Maney Publishing

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Abstract:

Complete androgen insensitivity syndrome (CAIS) is a rare and complicated endocrine condition in which individuals inherit a female phenotype but a male karotype of 46XY. It occurs as a result of a defect on the X chromosome inhibiting the effect of androgens during embryological development. Although magnetic resonance imaging is considered the gold standard imaging technique in cases of CAIS, these patients will often present in the ultrasound department with primary amenorrhoea. This case highlights both the value and limitations of ultrasound in such circumstances. Also considered are the many complex and sensitive issues involved, and the multi-disciplinary approach required, in the treatment of individuals diagnosed with CAIS.

Keywords: Primary Amenorrhoea; Ultrasound; CAIS

Document Type: Research article

DOI: 10.1179/174313409X448589

Affiliations: 1: <aff id="aff1"><addr-line>Department of Ultrasound, James Paget University Foundation Hospital NHS Trust, Norfolk, UK</addr-line>

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