A detailed literature overview has been performed to find previously described 3β-HSD2D patients and correlate clinical presentation with distinct variants in the <i>HSD3B2</i> gene.<h4>Results</h4>Case 1: A female neonate presented with adrenal insufficiency, electrolyte imbalances, hyperpigmentation, and congenital heart defects. Here, HSD3B2 is linked to Abnormality of metabolism/homeostasis.