Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty

The study reported on two brothers with testotoxicosis, a rare form of precocious puberty caused by a mutation in the luteinizing hormone receptor (LHR) gene, specifically the T577I mutation. One brother also had cartilage-hair hypoplasia (CHH). Over four years, the older brother was treated initially with ketoconazole, followed by anastrozole and cyproterone acetate, while the younger brother received the latter combination as first-line therapy. The treatment led to clinical improvements, including reduced growth velocity and bone maturation rate, which were expected to result in a taller adult stature. The study concluded that the combined treatment with anastrozole and cyproterone acetate was effective in improving the prognosis of adult height in patients with testotoxicosis.