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Complete androgen insensitivity syndrome with intra-abdominal seminoma in a phenotypic female: A rare presentation


 Department of Radiotherapy, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India

Correspondence Address:
Neha Sharma,
Department of Radiotherapy, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcrt.JCRT_302_18

Androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder which causes alterations in androgen receptor gene leading to hormone resistance, which may present clinically under three phenotypes: complete AIS (CAIS), partial AIS, or mild AIS. The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. We report a case of a 35-year-old woman who was diagnosed with CAIS and presented with malignant transformation of the undescended testis. The histopathology confirmed the presence of seminoma. In this case report, we reviewed the literature which describes the biochemical and endocrinological abnormalities leading to the syndrome. It also highlights the potential for malignant changes of the undescended testes, diagnosis, and therapeutic management.


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    -  Arora S
    -  Sharma N
    -  Rathi AK
    -  Singh K
    -  Sehrawat K
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