Reifenstein症候群の1例

概要

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A 18-year-old man was seen with hypospadias, gynecomastia, postpuberal testicular atrophy and underdeveloped secondary sex characteristics. He was diagnosed as male pseudohermaphroditism known as Reifenstein's syndrome. Laparotomy confirmed no development of the Mullerian duct system. There was dilated prostatic utricle on urethrogram. Cytogenetic and endocrine examinations were nothing particular; namely karyotype of 46 XY, normal urinary excretion of 17 KS, estrogen and gonadotropin. Biopsy of both testes revealed spermatogenic arrest histologically.