Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome.

BACKGROUND This study was carried out because of the rarity of peripheral precocious puberty (PPP) in boys with McCune-Albright syndrome (MAS) and the lack of data on adult height of treated MAS males, treatment for this disorder being not as yet standardized. AIMS To report the adult height of a MAS boy with PPP who was treated with ketoconazole - cyproterone acetate - leuprolide depot and to describe some atypical aspects of MAS presentation and course in this boy. CASE HISTORY The case concerns a boy presenting with unilateral macroorchidism, no signs of PPP or initially isolated Sertoli cell activation and MAS mutation that subsequently also activated Leydig cells, thus inducing a change in phenotypic expression. CONCLUSIONS a) In a MAS boy presenting with unilateral macroorchidism and no other signs of PPP, a consecutive involvement of Leydig cells may follow the initially isolated activation of Sertoli cells; b) prolonged treatment with ketoconazole - cyproterone acetate - leuprolide depot may be well tolerated and effective, as demonstrated by the very good adult height outcome recorded in our patient.