The aim of this study was to characterize the 46, XX testicular disorder, by an adult male phenotype patient who was diagnosed with the molecular analysis. 46, XX male syndrome is a disease seen in men with 46, XX karyotype whose genital structure can be traced back from normal ambiguous genitalia. Our case was a 5-year married 29-year-old male patient with azoospermia. In a male patient, karyotype and Y microdeletion analyzes were performed at the same time. 46, XX male karyotype revealed by the patient. Y microdeletions were found on the AZFA, AZF-B AZF-C gene by using multiplex PCR. The presence of SRY gene in the patient was determined with FISH analysis. Azoospermic patients admitted to the medical genetics clinic due to infertility must be identified by genetic analysis on molecular level in order to give a better genetic counseling to patients.
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