- 期刊
45,XO/46,XY in a Newborn with the Stigmata of Turner Syndrome: Report of One Case
45,XO/46,XY Turner症候羣新生兒的臨床表徵：一病例報告
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。
關鍵字
無資料並列摘要
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.