Siska Sinardja, I Wayan Bikin Suryawan, Made Arimbawa
Abstract: Background: Gender determination of a child is an important aspect which associated with individuals psychosocial function. The newborn infant with ambiguous external genitalia presents a problem of sex assignment and is frequently described as a clinical emergent situation that is distressing to the parents. Gonad development disorder or defect in androgen synthesis or function may cause ambiguous genitalia in 46 XY disorders of sexual development (DSD). Aim: To cover clinical profile, evaluation, and management of a patient with 46 XY DSD, with an aim to provide better understanding for clinician with similar case findings. Case: A 1-year-old child with male phenotype was presented with imperfect scrotum and impalpable bilateral cryptorchidism. Patients chromosomal analysis showed 46 XY DSD. Testicular ultrasound (USG) found a suspicion of left testicle in left pelvic region, and right testicle in right inguinal region. Anti-Mullerian hormone test result showed more than 46.000 ng/mL. Testosterone hormone examination after serial human chorionic gonadotropin (hCG) injection showed more than 186-fold increase in level of testosterone hormone compared to baseline. Surgical treatment with diagnostic laparoscopic approach and orchidopexy may be performed to prevent infertility in this patient. Conclusion: Individuals with 46 XY DSD may have testicular development disorder and impaired androgen synthesis or action which may cause ambiguous genitalia. Comprehensive management through multidisciplinary approach is needed in these cases.
Keywords: Genes, Gonad development, Sex development