Abstract
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.
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Messina, M.F., Aversa, T., de Sanctis, L. et al. Adult height following a combined treatment of ketoconazole — cyproterone acetate — leuprolide depot in a boy with atypical McCune-Albright syndrome. Hormones 14, 286–292 (2015). https://doi.org/10.14310/horm.2002.1515
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DOI: https://doi.org/10.14310/horm.2002.1515