Complete Androgen Insensitivity Syndrome: Role of Imaging for Diagnosis

Androgen insensitivity syndrome (AIS) is a rare disorder of sexual differentiation, characterized by impaired responsiveness to androgens, resulting in the development of typically female external genitalia, despite having a male chromosomal pattern (XY). In this case report, we describe the radiolo...

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Bibliographic Details
Published in:The Indian journal of radiology & imaging 2024-11
Main Authors: Ravina, Ravina, Amina, Nishat, Ghosh, Anupran
Format: Article
Language:English
Subjects:
androgen insensitivity syndrome
androgens
gonads
magnetic resonance imaging
Mullerian structures
primary amenorrhea
secondary sexual characteristics
ultrasound
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Summary:Androgen insensitivity syndrome (AIS) is a rare disorder of sexual differentiation, characterized by impaired responsiveness to androgens, resulting in the development of typically female external genitalia, despite having a male chromosomal pattern (XY). In this case report, we describe the radiological findings of two young siblings diagnosed with AIS who presented with primary amenorrhea. The diagnosis was confirmed on laparotomy and gonads were surgically removed in both the siblings.
ISSN:0971-3026
1998-3808
DOI:10.1055/s-0044-1793809