LONGITUDINAL EVALUATION OF TESTICULAR MORPHOLOGY AND FUNCTION IN MALE SUBJECTS AFFECTED FROM MCCUNE-ALBRIGHT SYNDROME

Objectives: Knowledge about testicular function in males affected from McCune-Albright syndrome (MAS) is limited, because of the rarity of this syndrome in male. In a previous study, we demonstrated for the first time, an high incidence (63%) of testicular microlithiasis (TM) in males with MAS, even in absence of peripheral precocious puberty (PPP). Clinical meaning of TM currently remain under discussion. Objectives: To establish what the evolution in time will be of hyphotalamus-hypophysis-testicles functionality and of TM. We also evaluated the possible association with new testicular lesions, ultrasonographically detectable, in MAS males. Methods: We recruited 11 MAS patients (diagnosis confirmed by specific genetic tests), already evaluated in the previous collaborative study, and they underwent clinical, laboratory and ultrasound evaluation after almost 10 years from the first assessment. Results: 55% of patients presented a PPP history. TM was detected in 63% of patients and no ultrasound changes overtime were found. No new cases of TM were diagnosed. TM and PPP were not always related. 82% of adolescent and young adult patients presented, apparently, a normal hyphotalamus-hypophysis-testicles functionality with normal values of FSH, LH and Testosterone. In 18% , testicular autonomy persisted even during post-pubertal period; oligospermia was detected only in one patient. No new testicular lesions were demonstrated by ultrasound evaluation, except two cases of I and II degree varicocele and two cases of epididymis’ cysts. Conclusions: Gonadal diseases are typical in MAS males and they are frequently represented by TM (63%). The available evidences suggest a lower risk for TM to evolve in malignancy, thereby a conservative follow-up (by ultrasound) is recommended. Gonadal functionality, during post-pubertal epoch, does not seem to be compromised among the majority of MAS males, although testicular autonomy may persist. However, further studies are needed to establish reproductive function in these subjects.