Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone β-Subunit Gene Expressed in a Compound Heterozygous Form

This report unravels two novel mutations of the LH gene critical for synthesis and activity of the LH molecule. The insight gained from the study is that normal pubertal maturation in women can occur in a state of LH deficiency, whereas LH is essential for maturation of Leydig cells and thus steroidogenesis, puberty, and spermatogenesis in man. These mutations should be considered in girls and boys with selective deficiency of LH.