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    SubjectsPathologyXX Male Syndrome (46,XX SRY-Positive Testicular DSD)
    Para-clinicalPathology

    XX Male Syndrome (46,XX SRY-Positive Testicular DSD)

    1 MCQs in Pathology for NEET PG

    1 Medium
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    A 27-year-old phenotypically male patient presents with primary infertility of 4 years duration. He has normal male external genitalia, phallic length of 12 cm, but small firm testes (6 mL bilaterally). Laboratory findings show elevated FSH (34 mIU/mL), elevated LH (19 mIU/mL), low testosterone (195 ng/dL), and azoospermia. Karyotype reveals 46,XX without visible Y chromosome material. FISH analysis using an SRY-specific probe demonstrates the structure marked **D** — the SRY gene translocated to distal Xp22.3. What is the primary molecular mechanism underlying this patient's condition?

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