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題 名 | 45,XO/46,XY in a Newborn with the Stigmata of Turner Syndrome: Report of One Case=45, XO/46, XY Turner症候群新生兒的臨床表徵:一病例報告 |
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作 者 | 吳芬芬; 王作仁; 陳慶福; 林美慧; 洪正昇; 高世平; 楊坤河; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷 期 | 31:4 民79.07-08 |
頁 次 | 頁242-248 |
分類號 | 417.517 |
關鍵詞 | Turner症候群; 腺母細胞瘤; 45,XO/46,XY mixed gonadal dysgenesis; Turner syndrome; Gonadoblastoma; |
語 文 | 英文(English) |
中文摘要 | 病人為第2胎,順產,足月新生兒,父母親年齡均為35歲,彼此間無血緣關係,第一胎為正常女嬰,已3足歲,病人出生後,即發現有面部異常,符合Turner症候羣,包括有眼距過寬,上眥贅皮,上眼瞼下垂,低位耳朵,高拱型上顎,蹼狀頸,短而寬擴的胸部,乳距過寬且乳頭發育不良,左中側有三度心縮雜音,外生殖器狀似男生,有一短小陰莖及發育不完全的陰囊皺摺。右側鼠膝部併腹股溝疝氣,左側可摸到睪丸,會陰型的尿道口下裂,上肢肘外翻,第四掌骨較短有斷掌現象,下肢外翻。病人尿中17KS含量正常,末梢血液淋巴球的染色體檢查顯示75%的45,XO及25%的46,XY。五個月大時,病人接受剖腹探查,左側骨盆腔有一疑似卵睪丸樣的性腺組織。兩側性腺組織切片檢查皆顯示為嬰兒型睪丸組織,含有seminiferous tubules及Sertoli cells,並無腺母細胞瘤。 |
英文摘要 | A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias. He also had patent ductus arteriosus, the secundum type of atrial septal defect and mitral stenosis. Chromosomes of peripheral blood showed mosaicism of cells with 45,XO/46,XY. An exploratory laparotomy was performed at five months of age. The right side ovotestis-like gonad was removed. The left side gonad in the scrotum was normal. No pathological gonadoblastoma was found. |
本系統中英文摘要資訊取自各篇刊載內容。