An incidental post autopsy association of Sirenomelia with bilateral congenital adrenal agenesis: an unreported entity

Dr. Supriya Kumari; Dr. Jasmina Begum; Dr. Mukund Namdev Sable

Volume : IX, Issue : VIII, August - 2020

An incidental post autopsy association of Sirenomelia with bilateral congenital adrenal agenesis: an unreported entity

Dr. Supriya Kumari, Dr. Jasmina Begum, Dr. Mukund Namdev Sable

Abstract :

Sirenomelia is a rare lethal congenital malformation and characterized by lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, imperforate anus, and renal agenesis or dysgenesis. Controversies on its etiopathogenesis persist and this developmental failure is supported by most recent theory of vascular pathogenesis resulting from a vitelline arterial steal which results in diversion of blood flow from caudal structures. Based on presence of skeletal elements in the thigh and leg, Stocker and Heifetz classified sirenomelia into seven different types. A 26 years primigravida at 19 weeks gestation came with the report of multiple congenital anomalies in the fetus. She opted for termination of pregnancy. The fetus post expulsion was found to be Sirenomelia type VI. At post mortem examination, it was detected that the fetus had well–developed renal organs associated with bilateral adrenal agenesis. This variant in Sirenomelia has not been reported previously. This case reinforces the role of the perinatal autopsy in stillborn anomalous fetuses, which could help us to verify the antenatal diagnosis, detect many more associated syndromic features, obtain tissue for histologic, molecular, or biochemical analysis and direct genetic testing and counseling sessions for parents.