FEMALE PSEUDOHERMAPHRODITISM

摘要

Introduction. 21α-hydroxylase deficiency is the most frequent cause of virilization in patients with female karyotype due to exposure of a female fetus to excess of androgen. We report anatomical and cosmetic results of feminizing genital reconstruction of two related patients (second cousin) with XX karyotype born with urogenital sinus anomalies (UGS) and not treated at birth. Materials and Metods. Patient 1 is 6-years old with ambiguous genitalia graded as Prader V and never undergone therapy or surgery. Patient 2 is 10-years old, graded as Prader IV and subjected to hormonal therapy and clitoral amputation at the age of 6. Mobilization of urogenital sinus, pull-through of vagina and tubulization of urethra was performed in both after placement of Foley chateters in vagina and bladder by cisto-vaginoscopy. Genitoplasty involved refashioning the tissues to create minora and majora labia and, after removal of corpora, partial clitorectomy was carried in patient 1 and clitoridal reconstruction in patient 2. Result. Vaginal introitus was positioned in the vestibule region below urethral meatus. Foley chateters was removed after two weeks in narcosis and the cosmetic and anatomic result was good. Conclusion. Goals of feminizing genitoplasty are to restore, soon as possible, anatomy achieving a more feminine appareance with a vagina for menstruation, to preserve reproductive capacity and to prevent urological sequelae but it’s also important to contribute in a development of a more stable gender identity. This procedure in two stage, based on an accurate diagnosis, is good to create feminine genital appareance in children with female pseudohermaphroditism expecially if not treated at birth.