46,XX disorder of sex development-anorectal anomalies syndrome

46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect that occurs during embryogenesis. In people with this condition, the karyotype is normal (46,XX) and the ovaries are normal, but the external genitalia can be male or ambiguous. The syndrome also includes features such as malformations in the urinary tract, ranging from missing kidneys on both sides to mild issues affecting one kidney, as well as anomalies in the müllerian ducts, like the absence of the uterus and vagina or a bicornuate uterus. Additional physical anomalies may occur, including an imperforate anus and problems with other structures such as the trachea and esophagus, the radii (bones in the arms), and gut rotation. These features make the condition complex, as multiple systems in the body can be affected.

Common signs in people with this condition include male or ambiguous genitalia despite a normal female karyotype, imperforate anus, various urinary tract malformations, and anomalies affecting the müllerian ducts. Other symptoms may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.

This condition originates from a developmental defect during embryogenesis. While the exact genetic or environmental causes are not fully understood, the condition is characterized by a normal 46,XX karyotype and normal ovaries, with the developmental anomalies affecting other organs and systems.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.