未分化胚細胞腫を合併したXY性腺形成不全症の1例

A CASE REPORT OF XY GONADAL DYSGENESIS WITH DYSGERMINOMA

緒言

　XY性腺形成不全症は，別名Swyer症候群とも言い，原発性無月経，乳房発育不全，腋毛恥毛の発毛不全など，女性の第2次性徴の欠如を主症状とする疾患である。染色体は，純粋な46XYであり，本来，睾丸になるべき未分化な性腺が，胎生8週以内に分化を停止したために発生するものと考えられている^1）。本邦では約20例が報告されている^2〜9）。この疾患では，未分化な性腺（streakgonad）から高率に腫瘍が発生するとされているが，最近，われわれはそのような1例を経験したので報告する。

An 18-year-old female without breast development was admitted because of primary amenorrhea. The external genitalia was of normal female type. The axillary and pubic hair were scanty. Endocrinologic examinations showed that estrogen and progesterone in both serum and urine were abnormally low and serum gonadotropins were markedly elevated. Karyotype was 46, XY. Laparotomy disclosed that there were the infantile uterus and fallopian tubes, no gonad except for a fibrous tissue at the left gonadal region and a small hen's egg sized mass at the right gonadal region.