Infantile XX male: A case report

Abstract

A case of infantile XX male syndrome with bilateral scrota1 testes and penoscrotal hypospadias is presented. No evidence of XX/XY mosaicism or Y chromatin was obtained in preparations from cultures of the peripheral blood, skin fibroblast, or other tissues. Although true hermaphroditism was suspected, exploration of the bilateral gonadal structures failed to detect the presence of ovarian structures, either groxly or microscopically. Furthermore, exploratory Iaparotomy revealed no Mullerian structures. The difficulty of early diagnosis of XX males in infancy is emphasized.

Two XX male brothers

“…Five of these were prepubertal boys (Table 2). The high incidence of anomalous external genitalia in such individuals might raise a question as to the definition of the XX male syndrome, originally described as a male with normally appearing male genitalia, although, hypogonadism had been noted in some cases (Miyashita et al 1976, Roe & Alfi 1977. There may perhaps be an etiological relationship between the XX male syndrome and true hermaphroditism (Takayasu et al 1973).…”