ea0081ep646 | Pituitary and Neuroendocrinology | ECE2022
Del Prete Michela
, Sacco Gianleone Di
, Bonomi Marco
, Vignati Federico
, Muratori Fabrizio
, Persani Luca
Introduction: Kallmann syndrome (KS) is a genetic condition characterized by the association of anosmia or hyposmia and GnRH deficiency resulting in congenital hypogonadotropic hypogonadism (CHH). Different genes can be implicated in KS, and the most frequent allelic variant occurs in the KAL1/ANOS1 gene in the X-linked form. Differential diagnosis is often made with other rare genetic diseases as CHARGE syndrome (CS) that includes hypogonadism, hyposmia and several organ defe...