Sporadic Testotoxicosis in Japanese Children: Report of 4 Cases

抄録

Familial testotoxicosis is a gonadotropin-independent autosomal dominant condition in which precocious puberty occurs, only in males. We present the cases of four Japanese boys with precocious sexual development aged 3 to 4 years, who showed pubertal serum testosterone levels, but with low basal serum gonadotropin levels and a minimal response of gonadotropins to luteinizing hormone releasing hormone. They showed symmetric testicular enlargement, premature Leydig cell maturation and spermatogenesis. There was no evidence of familial sexual precocity in three generations. These findings are consistent with familial testotoxicosis except for the negative family history. In a nationwide survey for precocious puberty in Japan, there were no familial cases of male-limited sexual precocity. It appears that this disease is limited to sporadic cases and is very rare in Japan.