Congenital Adrenal Hyperplasia: A Case Report of Bilateral Adrenal Gland Enlargement in a 13-Day-Old Neonate

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. It can be observed with varied clinical symptoms. It can be diagnosed with the help of biochemical tests, radiologic imaging, and genetic testing. Sonography can be helpful in identification of bilateral adrenal gland enlargement. A case is presented of a 13-day-old female neonate, who was brought to the radiology department for detailed screening, due to the presence of ambiguous genitalia. She was incidentally found to have bilateral adrenal gland enlargement. The sonographic findings revealed enlarged bilateral adrenal glands. The remainder of the diagnostic findings were deemed to be normal, except for the incidental finding of a uterus-like structure. Hence, the neonate was further evaluated for CAH hormonal and genetic evaluations. This patient case reinforces the need for a multidisciplinary approach involving radiology, endocrinology, and genetics, to provide an early diagnosis, intervention, and improved outcomes associated with CAH. This case also highlights the importance of clinician’s awareness and family counseling.