Male family members with the hemizygous mutation in the PLS3 gene usually present osteoporosis and fractures of the axial and appendicular skeleton in childhood, while female family members with heterozygous mutations have a wide variety of presentations, ranging from normal bone density and an absence of fractures to early-onset osteoporosis and vertebral compression fractures [2–6]. This evidence concerns the gene PLS3 and osteoporosis.