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A Rare Case of Infertility: SRY Positive 46, XX Testicular Disorder of Sexual Differentiation
D Bogdanet1,2, T P Griffin1,2, M Bell1
1Galway University Hospital, Galway, Ireland.
Abstract:
Aim To highlight the complexity of infertility causes by describing the rare case of a man with a testicular disorder of sexual differentiation. Diagnosis A 33 years old Caucasian male presented with a 3-year-old history of primary infertility. His investigations revealed a low testosterone and a raised LH and FSH levels. A sample sent for sperm analysis revealed azoospermia. Chromosomal analysis and karyotyping revealed a 46 XX SRY positive karyotype. Treatment The patient was initiated on testosterone replacement and on calcium/vitamin D supplements. Conclusion Fertility evaluation requires complex assessments and a broad knowledge of possible causes.
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