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題 名 | Charcot-Marie-Tooth症候群合併高促性腺泌素低性腺功能和聽力喪失:一病例報告=Charcot-Marie-Tooth Syndrome with Hypergonadotropic Hypogonadism and Hearing Loss: a Case Report |
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作 者 | 陳涵栩; 高克培; 宋秉文; 賴宗佑; 林宏達; | 書刊名 | 中華民國內分泌暨糖尿病學會會訊 |
卷 期 | 11:3=43 1998.04[民87.04] |
頁 次 | 頁23-28 |
分類號 | 415.936 |
關鍵詞 | Charcot-marie-tooth症候群; 感覺神經性聽力喪失; 高腺促素性腺低能症; Charcot-marie-tooth syndrome; Sensorineural hearing loss; Hypergonadotropic hopogonadism; |
語 文 | 中文(Chinese) |
中文摘要 | 一個21歲的女生主訴原發性無月經,性發育不成熟,聽力不良和四肢畸形。身體檢查發現,身高160公分(上半身60公分,下半身100,兩手張開有172.5公分),體重40公斤,血壓110/72毫米汞柱。她的乳房和外生殖器官都沒有發育,沒有陰毛也沒有腋毛(Tanner stage O)。抽血檢查發現泌乳素正常,動情激素低下,濾胞促素(FSH)和黃體促素(LH)濃度上升,診斷為高性腺促素性腺低能症(Hypergonadotropic hypogonadism)。神經肌肉學檢查發現四肢嚴重的消瘦(disuse wasting),膝蓋反射消失而且沒有足蹠反應。兩手呈現輕微的爪形手和輕微地喪失一些功能,而雙腳呈現姆趾外翻。骨盆超音波檢查發現存在比較小的子宮和卵巢。染色體檢查為正常的女性(46XX)。聽力檢查發現兩側均為感覺神經性聽力喪失。神經傳導和肌電波檢查發現多神經的感覺運動病變合併軸突退化。小腿腹肌的活組織切片檢查診斷為神經原型態的CharcotMarie-Tooth症候群。後來病人接受雌性素和助孕素週期性荷爾蒙補充治療,足趾關節固定術,裝上助聽器並且接受復健治療。 |
英文摘要 | A 21-year-old woman presented with primary amenorrhea, sexual immaturity, hearing loss and deformities of limbs. On the physical examination, the body height was 160 cm (upper/lower=60/100, arm span=172.5cm), body weight was 40 Kg, BP 110/72 mmHg. Her breasts and external genitalia had no development, no pubic hair and no axillary hair (Tanner stage O). Normal serum prolactin, low estrodiol, and high FSH, LH levels confirmed the diagnosis of hypergonadotropic hypogonadism. The neuromuscular examination showed severe disuse wasting of the muscle of the four limbs, areflexia of the knee jerk and no plantar response. Both hands present mild clawing and mild loss of function, and the feet revealed hallux valgus. The pelvic sonogram examination showed presence of uterus, ovaries, but relative small in size. The chromosome study was normal female type (46 XX). The pure tone audiogram revealed bilateral sensorineural hearing loss. The nerve conduction velocity and electrical musculogram revealed sensorimotor polyneuropathy with axonal degeneration. The pictures of sural nerve biopsy were compatible with neuronal form of Charcot-Marie-Tooth syndrome. The patient was treated with estrogen and progesterone cyclic hormone replacement, toes arthrodesis, hearing aids, and rehabilitation. |
本系統中英文摘要資訊取自各篇刊載內容。