<b>Conclusion:</b> This case describes the clinical phenotype associated with a rare <i>SPRY4</i> gene allelic variant, consisting in congenital severe smell defect and adult-onset IHH; in patients with apparently isolated congenital anosmia genetic analysis can be valuable to guide follow up, since IHH can manifest later in adulthood. This evidence concerns the gene SPRY4 and Anosmia.