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Background: Sex reversal syndrome (SRS) is a human chromosomal abnormality disease with gender dysplasia, which is characterized by inconsistency between social sexuality and genetic sexuality.
Methods: We report a case of sex reversal syndrome with 46, XX. Chemiluminescence was used to detect serum sex hormones, including testosterone (T), luteinizing hormone (LH), and follicular stimulation (FSH), and 15 karyotype analysis.
Results: The levels of FSH and LH in serum were high, and the level of T in serum was low. The karyotype analysis showed that the nuclear type of the patient was 46, XX. The examination of the sex-determining region Y (SRY) gene showed positive results.
Conclusions: The main principle of diagnosing the 46, XX male SRS is early determination of chromosome, gonad, and genitalia gender. When the prenatal ultrasound diagnosis of pregnant women is inconsistent with the results of cytogenetics, caution should be taken to avoid the birth of children with 46, XX male SRS.
DOI: 10.7754/Clin.Lab.2018.180529
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