異所性副腎皮質を伴ったRubinstein-Taybi症候群の1例

RUBINSTEIN-TAYBI SYNDROME ASSOCIATED WITH ABERRANT ADRENAL TISSUE:A CASE REPORT

　5歳11ヵ月，男児。主訴は両側陰嚢内容の欠如。現症にて幅広い第1指趾，特有の顔貌，精神発達遅延，発育遅延などの所見よりRubinstein-Taybi症候群と診断。両側陰嚢内容欠如あり両側停留睾丸を疑って手術を施行。両側睾丸とも腹腔内，総腸骨動脈上方に存在し，やむなく睾丸を摘除した。摘除された右睾丸上方に黄色の副腎様組織が偶然見つかり，組織学的に大部分束状帯の細胞よりなる副腎皮質と確認された。

A 5-year-old boy visited our department with a complaint of bilateral impalpable testes.Broad thumbs and great toes,characteristic facial appearance and mental retardation which were compatible with Rubinstein-Taybi syndrome were observed.Because bilateral testes were impalpable in the scrotum and in the inguinal region,we performed an operation.Bilateral testes were disclosed in peritoneal cavity,and bilateral orchidectomy was performed because orchidopexy was impossible.Aberrant adrenal tissue was incidentally found near the right testis,which was histologically consisted of adrenocortical cells.