Molecular genetic analysis role in diagnosis of primary amenorrhea patients

Abstract EN

Twenty one cases of primary amcnorrhea, with poor sccondary scxual charactcrs, were studied clinically and gcnetically to assign SRY gene dcfect incidence.

Différent primary amcnorrhea catégories were diagnoscd but only one casc show's abnormally positive SRY gcnc in a 46 XX intersex patient.

This casc shows dcfectcd malcncss internai genitalia and variable dcgrec of cxtcmal genitalia development.

Howcvcr this single casc represent an incidcncc rate of (0.047(4.7%)).

Molccular analysis shows accuratc and applicable investigation, and rccommcnded to cnrollcd as a routine investigation in diagnosis of ail cases of interscxual risk.