Central precocious puberty in a case of late-diagnosed familial testotoxicosis and long-term treatment monitoring.

Familial testotoxicosis is a disease with autosomal dominant inheritance that only affects men and which causes gonadotropin-independent precocious puberty. Although basal levels of luteinizing hormone and follicle-stimulating hormone are low, similar to what is expected in the pre-pubertal period, testosterone levels are high. Bicalutamide as an anti-androgen medication and anastrozole as an aromatase inhibitor have been proposed as agents that can be safely used in children. In the present study, we present the case of coexistent familial testotoxicosis and central precocious puberty induced by long-term androgen exposure in a patient aged 7.5 years, whose clinical symptoms started at the age of 4 years. Along with our experience with the effects of long-term (3 years) anastrozole plus bicalutamide treatment in this case, we discuss the relevant literature.