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范可尼贫血中垂体柄中断导致的生长激素缺乏症。

Growth hormone deficiency caused by pituitary stalk interruption in Fanconi's anemia.

作者信息

Dupuis-Girod S, Gluckman E, Souberbielle J C, Brauner R

机构信息

Pediatric Endocrinology and Immuno-Hematology Departments, Physiology Laboratory, Université René Descartes and Hôpital Necker-Enfants Malades, Paris, France.

出版信息

J Pediatr. 2001 Jan;138(1):129-33. doi: 10.1067/mpd.2001.109200.

DOI:10.1067/mpd.2001.109200
PMID:11148528
Abstract

Fanconi's anemia can be associated with growth retardation. We describe biologic growth hormone deficiency, isolated or associated with thyrotropin abnormality, and pituitary stalk interruption syndrome on magnetic resonance imaging of 5 patients with Fanconi's anemia. Growth hormone treatment produced catch-up growth in all cases. These findings suggest a common genetic origin.

摘要

范科尼贫血可能与生长发育迟缓有关。我们描述了5例范科尼贫血患者的生物学生长激素缺乏症,可为孤立性或伴有促甲状腺激素异常,以及磁共振成像显示的垂体柄中断综合征。生长激素治疗在所有病例中均产生了追赶生长。这些发现提示存在共同的遗传起源。

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