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.
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.