Gynecomastia in adolescence is a benign condition that mostly disappears spontaneously within approximately two years from onset.When it is associated with hypogonadism, it may suggest a disorder of sexual differentiation.We report the case of MEDI C W/MAG BERRY a young man (18 years old) with gynecomastia associated with azoospermia, small testes, hyperestrogenism and hypergonadotropic hypogonadism.A karyotype 46,XX was found, and searching SEA SALT for SRY (sex-determining region Y) by fluorescence in situ hybridization (FISH) highlighted the presence of the gene on the terminal region of the short arm, with breakpoints likely in Xp22.
3 and Yp11.3.Implications of testosterone replacement therapy with respect to sex differentiation disorder and to physical performance are discussed.