両側精巣腫瘍を呈した先天性副腎皮質過形成の1例

Abstract

症例:21歳男.出生直後に先天性副腎皮質過形成(CAH)と診断され, 小児科にてホルモン補充療法を受け, 14歳頃より身長の伸びが不良となった以外特に問題なく経過していた.初診時陰嚢内容は両側とも腫大し, 内部には石様硬の結節を多数触知した.ホルモン検査ではACTHと17α(OH)プロゲステロンが異常高値を示した.以上の所見および画像所見より, 文献で報告されているCAHに伴う精巣の腫瘍性変化も疑い生検を行った.病理組織所見からCAHに伴う精巣の腫瘍性変化として矛盾しないと判断し, ステロイドの増量を行い精巣の変化を観察した.半年から1年で精巣の結節は次第に退縮し, その後肥満傾向が増悪したためステロイドの維持量を減量し経過を見ている.現在精巣の大きさはほぼ正常大であるが, 腫瘤上の結節はそれ以上の退縮傾向が認められていない

We report a case of congenital adrenal hyperplasia (CAH) occurring in a 21-year-old man. He was found to have 21-hydroxylase deficiency shortly after birth in search for the cause of vomiting and adrenal insufficiency, and placed on steroid therapy. He had an uneventful childhood with normal onset of puberty. At the age of 21 years he was hospitalized with bilateral testicular masses. They were non-tender, firm and nodular on palpation. The levels of adrenocorticotrophic hormone (ACTH), 17 alpha-hydroxyprogesterone (17 alpha-OHP) were found to be elevated. Testicular biopsy revealed that the nodule comprised mainly eosinophilic sheets and nests and polygonal cells with abundant, granular cytoplasm, but no crystals of Reinke were seen. Testicular tumor with congenital adrenal hyperplasia is typically bilateral and develops in untreated or inadequately treated males with CAH.