RESUMEN
Background and Aims: Of late, there are many legal representations from select quarters to halt all medical interventions in children with differences of sex development (DSD). In this survey on management decisions in DSD, we distil the views of Indian stakeholders: parents, physicians, and grown-up patients with DSD on their management decisions to identify decisional satisfaction or gender dysphoria. Methods: The survey domains included the patient demographics, final diagnosis, decision on the sex of rearing, surgical interventions, opinion of the stakeholders on the preferred age of sex assignment, final sex of rearing, and agreement/disagreement about sex assignment (gender dysphoria). Results: A total of 106 responses were recorded (66% parents, 34% grown-up patients aged 12-50 years). Among parents, 65/70 (95%) preferred the sex to be assigned soon after birth. All grown-up patients preferred sex to be assigned soon after birth. Regarding decisions on surgery, 74% of physicians and 75% of the grown-up patients felt parents should be allowed to decide interventions. Among Indian parents, 90% felt they should have the right to decide surgery in the best interest of their child for a safe social upbringing. Overall, gender dysphoria among Indian DSD patients was <1% (1/103, 0.97%). Conclusions: The predominant preference and opinion of major Indian stakeholders (physicians, parents, and grown-up DSD patients) support the existing approach toward DSD management, including early sex assignment and necessary medical intervention.
RESUMEN
ABSTRACT: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad.