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Infantile XX male: A case report
Author(s) -
Miyashita Atsushi,
Isurugi Koichiro,
Aoki Hiroko
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb00035.x
Subject(s) - true hermaphroditism , exploratory laparotomy , hypospadias , sex chromatin , scrotum , laparotomy , fibroblast , biology , anatomy , medicine , pathology , karyotype , genetics , surgery , chromosome , gene , in vitro
A case of infantile XX male syndrome with bilateral scrotal 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 grossly or microscopically. Furthermore, exploratory laparotomy revealed no Mullerian structures. The difficulty of early diagnosis of XX males in infancy is emphasized.