RESUMO
Introduction: The term "disorders of sexual differentiation" refers to a variety of issues that result in the baby's genitalia being underdeveloped or showing characteristics shared by both sexes. Normal sexual development in utero requires a precise and coordinated spatiotemporal sequence of numerous activating and suppressing factors. Inadequate development of the bipotential gonad into an ovary or a testis is one of the most frequent causes of genital ambiguity (partial gonadal dysgenesis). One in every 50,000 babies suffers from cloacal anomalies, which makes it one of the rarest congenital malformations. The supernumerary kidney is an extremely uncommon congenital abnormality with less than 100 cases reported in the literature. Case: We present five days old neonate admitted to the neonatal intensive care unit with a complaint of absence of anal orifice. The baby had not passed meconium within 48 hours after delivery, but the families later realized that meconium had been passing through the urethral orifice along with urine. The child was born to a 32-year-old para-four woman who claims to have been amenorrheic for the past nine months but could not recall her last regular period. On physical examination, the abdomen was grossly distended, and there was no anal opening other than just a dimple on the sacrococcygeal area, and the external genitalia appears female on inspection with labia majora well developed and no fusion. Conclusion: Disorder of sexual differentiation is a clinically diverse set of diseases that interferes with the proper differentiation and determination of sex in the embryo and fetus. One in 50,000 live births results in cloacal abnormalities, which are extremely uncommon. Less than 100 examples of the supernumerary kidney have been documented in the literature, making it an exceptionally rare congenital anomaly.
