Figure 1.

Clinical outcomes of patients with congenital lipoid adrenal hyperplasia. Among the 45 patients, 22 were genetic males and 23 had a 46,XX karyotype. Most patients (41/45, 91.1%) presented with adrenal insufficiency in the neonatal period, while three late-onset patients showed skin hyperpigmentation after the infantile period. Two patients had neurodevelopmental deficits caused by adrenal insufficiency resulting from poor adherence to medication. Three genetic female patients experienced spontaneous puberty.