Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II

Abstract

Introduction: Male fetal sex differentiation is dependent on the androgen production of fetal testicular Leydig cells, which is induced by placental human chorionic gonadotropin. Later during gestation it is maintained by luteinizing hormone, secreted by the fetal pituitary gland. As the action of both glycoprotein hormones is mediated by the luteinizing hormone/chorionic gonadotropin receptor (LHCGR), this receptor is essential for male sex differentiation as well as for normal reproductive function in the adult.