A xx Male (SRY+) Disorder of Sexual Development; A Case Report and Review of Articles
46 XX male DSD which was previously named “de la Chapelle” syndrome is a rare disorder found in every 20000 infant males. Sixty to ninety percent of 46-XX males are fully virilized and have normal genitalia except small testicles. This report explains a 40 year-old infertile man presented with small testes and azoospermia but no signs of undervirilization. His had hypergonadotropic hypogonadism. Lymphocytes were cultured in GibcoTM RPMI Medium 1640 for 7 days for karyotyping which revealed 46XX. In conclusion, not to miss genetic defects like 46, XX male DSD, karyotype test should be considered in cases with atrophic testicles plus azoospermia even in adult men.
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