SRY-negative 46,XX testicular disorder of sex development (de la Chapelle syndrome) presenting with primary infertility: a case report
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De la Chapelle syndrome describes phenotypic males with a 46,XX karyotype, most commonly caused by translocation of the SRY gene. The SRY-negative variant is exceptionally rare and invariably associated with non-obstructive azoospermia. Awareness of this condi... ...
