Other male with 46, XX karyotype

This code identifies individuals who are phenotypically male but possess a 46, XX karyotype, indicating a chromosomal sex reversal. This condition often results from the translocation of the SRY gene from the Y chromosome to an X chromosome during paternal meiosis, leading to male development despite the absence of a Y chromosome.

Apply this code for patients presenting with male external genitalia but confirmed by genetic testing to have a 46, XX chromosomal constitution. Documentation should clearly state the karyotype analysis results and the patient's phenotypic sex. This is typically diagnosed during investigations for infertility, ambiguous genitalia, or other reproductive anomalies.

• Ensure genetic testing results confirming the 46, XX karyotype are present in the medical record.
• Do not confuse with other sex chromosome abnormalities or intersex conditions where a Y chromosome is present.
• Sequence this code as a primary diagnosis when the 46, XX male syndrome is the reason for the encounter, or as a secondary diagnosis when it contributes to another primary condition.