Article

Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty.

Paediatric Endocrinology Unit, Hôpital Necker-Enfants Malades, Paris, France.
Journal of pediatric endocrinology & metabolism: JPEM (Impact Factor: 0.75). 11/2008; 21(10):995-1002.
Source: PubMed

ABSTRACT Testotoxicosis is a rare form of precocious puberty caused by a constitutively activating mutation in the luteinizing hormone receptor (LHR) gene. Symptoms include rapid virilization, accelerated growth and reduced adult height. We describe a rare association of testotoxicosis with a metaphyseal chondrodysplasia called cartilage-hair hypoplasia (CHH) and report two brothers with testotoxicosis after 4 years of treatment. The brothers had a T577I mutation in the LHR gene. One brother also presented CHH. The older brother was treated with ketoconazole, then with the aromatase inhibitor anastrozole and the anti-androgen cyproterone acetate. The younger brother received this combination as first-line therapy. Clinical improvements included reductions in growth velocity and bone maturation rate, which should result in taller adult stature. Tolerance was good. CONCLUSION: Combined treatment with anastrozole and cyproterone acetate is effective in improving the prognosis of adult height in testotoxicosis.

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