In addition, SEDLIN has been reported to inhibit the PITX1 and SF1 mediated transactivation of the β-subunit of the luteinizing hormone [4], and the effects of the loss of interaction, due to the SEDLIN mutations, between SEDLIN and PITX1 and SF1 on the pituitary-gonadal response and the delayed puberty observed in some boys affected with SEDT [18] remain to be defined. This evidence concerns the gene PITX1 and spondyloepiphyseal dysplasia tarda, X-linked.