ファラスの急激な成長によって発見された性腺形成不全型男性仮性半陰陽の1例

Abstract

過去6ヵ月間にファラスが急成長した10歳女児で, 尿道口と腟開口部は正常な位置にあり, ファラスは径1.5cm, 長さ4cmであった.X線検査で腟, 子宮, 及び卵管様構造を認めた.核型は46, XY(71.5%), 45, X(26%), 及びその他(2.5%)を持つモザイク型であった.両側性腺は性腺芽腫を持つ異常発生精巣組織であった.左側では巣状的未分化胚細胞腫が発生していた.両側性腺摘除及び陰核縮小形成術を行った

A case of male dysgenetic pseudohermaphroditism detected by the rapid growth of phallus is reported. A 10-year-old girl with rapid growth of a phallus during the past 6 months was referred to our clinic. Physical examination revealed a normally located urethral meatus and introitus with a 1.5 cm x 4 cm phallus. Radiographic studies revealed a vagina, uterus and fallopian tube-like structures. Karyotype was a mosaicism with 46, XY (71.5%), 45, X (26%), and others (2.5%). Bilateral gonads were dysgenetic testicular tissue with gonadoblastoma. Focal dysgerminoma was developed on the left side. Bilateral gonadectomy and feminizing phalloplasty were performed.