范可尼贫血的内分泌研究。4例报告。
Endocrine studies in Fanconi's anaemia. Report of 4 cases.
作者信息
Aynsley-Green A, Zachmann M, Werder E A, Illig R, Prader A
出版信息
Arch Dis Child. 1978 Feb;53(2):126-31. doi: 10.1136/adc.53.2.126.
Four boys with Fanconi's anaemia and growth hormone (GH) deficiency are reported. Case 1 had isolated GH deficiency and responded to HGH and to oxandrolone treatment. Case 2, his brother, had milder haematological and dysmorphic manifestations and maintained a low-normal growth rate without treatment in spite of laboratory evidence of GH deficiency. Case 3 had multiple hypothalamopituitary defects, including deficiencies of GH, ACTH, and gonadotrophins. Case 4 had isolated GH deficiency and responded moderately well to HGH treatment. 3 of the 4 patients had bilateral cryptorchidism, 2 with increased plasma gonadotrophins, indicating primary testicular failure. We conclude that GH deficiency, isolated or combined with other hypothalamopituitary defects, and primary testicular failure with cryptorchidism are frequent but not constant features of Fanconi's anaemia.
本文报告了4例患有范科尼贫血和生长激素（GH）缺乏症的男孩。病例1为单纯性生长激素缺乏，对人生长激素（HGH）和氧雄龙治疗有反应。病例2是他的兄弟，血液学和畸形表现较轻，尽管实验室检查有生长激素缺乏的证据，但未经治疗仍维持低正常生长速度。病例3有多发性下丘脑 - 垂体缺陷，包括生长激素、促肾上腺皮质激素（ACTH）和促性腺激素缺乏。病例4为单纯性生长激素缺乏，对人生长激素治疗反应中等。4例患者中有3例患有双侧隐睾症，其中2例血浆促性腺激素升高，提示原发性睾丸功能衰竭。我们得出结论，生长激素缺乏，无论是单独存在还是与其他下丘脑 - 垂体缺陷合并存在，以及伴有隐睾症的原发性睾丸功能衰竭，都是范科尼贫血常见但并非恒定的特征。
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