Bao-An Lin

A novel HSD3B2 variant of uncertain significance (c.64_66del, p.Leu22del) in a female infant with 3β-hydroxysteroid dehydrogenase deficiency presenting with completely normal external genitalia: a case report

The case of a 10-day-old female infant who presented with feeding difficulties, generalized skin hyperpigmentation, and hyperkalemia, yet had completely normal external genitalia emphasizes that 3β-HSD deficiency should be suspected in neonates with salt-wasting manifestations, even with completely normal external geni...