Myriad Manifestations of 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency-A Tale of Two Infants

3-Beta-hydroxysteroid dehydrogenase type 2 (3 beta-HSD2) deficiency is a rare variety of congenital adrenal hyperplasia. Based on the severity of the enzymatic defect, it can present with a salt-wasting crisis in both sexes to undervirilization in males and virilization in females. We report two cases of infants with extremes of presentation of this congenital adrenal hyperplasia. First was a 28-day-old child presenting with a salt-wasting crisis while the other was a one-month-old child presenting with ambiguous genitalia. Clinical exome sequencing of the first child confirmed the diagnosis and we report a novel mutation of this gene, while the second child was diagnosed biochemically by raised synacthen-stimulated 17-OH-pregnenolone. The first case was managed with glucocorticoid and mineralocorticoid supplementation, while the second child was managed conservatively. Due to variable presentations, 3 beta-HSD2 deficiency should be kept as a differential diagnosis while evaluating a child with congenital adrenal hyperplasia.