ESPE Abstracts

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46, XX testicular DSD presenting as VACTERAL abnormality.

Case History: Baby boy born as a first chi to second degree consanguineous parents at term with the birth weight of 2800 g. He had multiple congenital abnormalities. Which include imperforated anus, tracheo esophageal fistula, Tetralogy of Fallot, urogenital abnormality and ambiguous genitalia. Examination of external genitalia reveled prominent labioscrotal folds with pigmentation without rouge. Phallus was 1cm without palpable gonads in the perineal region. Ultrasound reveled bilateral undescended intra abdominal testes without identifiable Mullerian structure and ovaries. He also had complex urogenital sinus abnormality and left side dysplastic kidney. Karyotyping came as 46,XX SRY negative. He underwent loop sigmoid colostomy, esophagostomy and gastrostomy, vesicostomy and TOF repair. He is awaiting for esophageal reconstruction, refashioning colostomy, biopsy of intra abdominal gonads and orchidopexy.

Discussion: Majority of patients with 46,XX, SRY negative testicular DSD present with genital ambiguity (micropenis, hypospadias, and cryptorchidism) and infertility. Our patient had multisystem congenital abnormality suggestive of VACTERL syndrome. The SRY gene has a critical role in sex determination. SOX9, FGF9, and MAP3K1genes play role in testicular development, RSPO1 and WNT4 genes involve in ovarian development. Dysregulation of above genes such as over expression of SOX9 and under expression of RSOP1 will lead to testicular DSD in the absences of SRY. This child need lifelong follow up from multiple specialties. Genetic testing will help to find the exact etiology and appropriate further follow up.