Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?

Background: 5α-Reductase 2 deficiency (5ARD) is a known cause of 46,XY disorders of sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) measurement, but the results are often equivocal, potentially leading to misdiagnosis. We reviewed alternative approaches for diagnosis of 5ARD.

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.

Background: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene.

Methods: A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia.