Challenges in Diagnosing Androgen Insensitivity Syndrome
Author Information
Author(s): Melo Caroline OA, Silva Daniela M, da Cruz Aparecido D
Primary Institution: Pontifícia Universidade Católica de Goiás
Hypothesis
What is the extent of the mutation affecting the AR gene in a teenage girl with a male karyotype?
Conclusion
The case highlights the importance of accurate genetic testing for diagnosing androgen insensitivity syndrome.
Supporting Evidence
- The patient had a male karyotype but was raised as a female.
- Genetic testing revealed a large deletion in the AR gene.
- Proper diagnosis is critical for appropriate gender assignment and treatment.
Takeaway
This study is about a girl who was raised as a girl but had a male chromosome pattern due to a genetic condition. It shows how important it is to do the right tests to understand such conditions.
Methodology
Genetic testing using PCR and FISH to identify mutations in the AR gene.
Limitations
FISH alone was insufficient for diagnosis due to the size of the probe used.
Participant Demographics
Caucasian female, aged 15.
Digital Object Identifier (DOI)
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