[46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature].

The new mutation c.458T> C (p.Leu153Pro) of the LHCGR gene found in the 46, XY DSD patient may cause LCH by interfering with the binding function of the ligand, which has enriched the LHCGR gene mutation database and provided some reference for the studies on the LCH genotype, its phenotypic correlation and gene functions.