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脆性X综合征男性的甲状腺功能。

Thyroid function in fragile-X syndrome males.

作者信息

Bregman J D, Leckman J F, Ort S I

机构信息

Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06510.

出版信息

Yale J Biol Med. 1990 Jul-Aug;63(4):293-9.

PMID:2125773
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2589194/
Abstract

Twelve males with fragile-X syndrome between the ages of three and 28 years underwent assessment of thyroid function. All 12 subjects demonstrated normal baseline values for thyroid stimulating hormone (TSH), thyroxine, thyroid binding globulin (TBG), and estimated free thyroxine (EFT). Relative to a control group reported in the literature, however, the fragile-X subjects exhibited a blunted TSH response to thyrotropin releasing hormone (TRH). This finding suggests the presence of subtle dysfunction within the hypothalamic-pituitary-thyroid axis. Elevated baseline prolactin levels were also observed among the fragile-X subjects. These results support previous reports of hypothalamic-pituitary abnormalities among fragile-X syndrome males.

摘要

12名年龄在3岁至28岁之间的脆性X综合征男性接受了甲状腺功能评估。所有12名受试者的促甲状腺激素(TSH)、甲状腺素、甲状腺结合球蛋白(TBG)和估计游离甲状腺素(EFT)的基线值均正常。然而,与文献中报道的对照组相比,脆性X受试者对促甲状腺激素释放激素(TRH)的TSH反应迟钝。这一发现提示下丘脑-垂体-甲状腺轴存在细微功能障碍。在脆性X受试者中还观察到基线催乳素水平升高。这些结果支持了先前关于脆性X综合征男性下丘脑-垂体异常的报道。

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JUVENILE HYPOTHYROIDISM AND PRECOCIOUS TESTICULAR MATURATION.
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Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.脆性X染色体:对来自七个家族病例的临床和细胞遗传学研究
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The Martin-Bell syndrome: a psychological, logopaedic and cytogenetic study of two affected brothers.马丁-贝尔综合征:对两名患病兄弟的心理学、言语矫正学及细胞遗传学研究
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Familial X-linked mental retardation syndrome associated with minor congenital anomalies, macro-orchidism, and fragile X-chromosome.与轻微先天性异常、巨睾症和脆性X染色体相关的家族性X连锁智力发育迟缓综合征
Am J Ment Defic. 1983 Jan;87(4):372-6.
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An anthropometric study of males with the fragile-X syndrome.一项针对脆性X综合征男性患者的人体测量学研究。
Am J Med Genet. 1984 Jan;17(1):159-74. doi: 10.1002/ajmg.1320170110.
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Am J Med Genet. 1984 Jan;17(1):133-44. doi: 10.1002/ajmg.1320170108.
7
Macroorchidism and fragile X in mentally retarded males. Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28, fra(X)(q28).智力发育迟缓男性的巨睾症与脆性X染色体。对智力发育迟缓男性进行的临床、细胞遗传学及一些激素检查,包括两名在Xq28有脆性位点[fra(X)(q28)]的患者。
Hum Genet. 1982;61(2):113-7. doi: 10.1007/BF00274199.
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Testicular size: assessment and clinical importance.睾丸大小:评估及临床意义。
Triangle. 1966;7(6):240-3.
9
Juvenile hypothyroidism with testicular enlargement.
Acta Paediatr Scand. 1970 May;59(3):317-22. doi: 10.1111/j.1651-2227.1970.tb09010.x.
10
Synthetic thyrotropin-releasing hormone. A potent stimulator of thyrotropin secretion in man.合成促甲状腺激素释放激素。人体促甲状腺激素分泌的强效刺激剂。
N Engl J Med. 1971 Dec 2;285(23):1279-83. doi: 10.1056/NEJM197112022852302.