Yoshimoto M, Kinoshita E, Baba T, Matsumoto T, Nii-Kawa N, Matsuda I, Tsuji Y
Department of Pediatrics, Nagasaki University School of Medicine, Japan.
Acta Paediatr Scand. 1990 Dec;79(12):1247-51. doi: 10.1111/j.1651-2227.1990.tb11420.x.
An extreme dwarf 10-year-old boy was described. His clinical features resemble those of isolated GH deficiency type 1A, but the Southern blot analysis showed no gross deletion in the GH structural gene. Endocrinological evaluations showed severe GH and PRL deficiencies, and mild TSH deficiency. The simultaneous deficiencies of anterior pituitary hormones in our patient resemble those of the Snell and Ames dwarf mice and suggest a common etiology. The evolutionary and embryological similarities between GH and PRL imply that mutations at a gene which controls GH and PRL production in somatotropes and lactotropes or at a gene of which product affects the embryological development from a common ancestral cell in the anterior pituitary gland may be a primary defect in our patient.
报道了一名10岁的极端矮小男童。其临床特征类似于1A型孤立性生长激素缺乏症，但Southern印迹分析显示生长激素结构基因无大片段缺失。内分泌学评估显示严重的生长激素和催乳素缺乏，以及轻度促甲状腺激素缺乏。我们患者中垂体前叶激素的同时缺乏类似于Snell和Ames侏儒小鼠的情况，提示有共同的病因。生长激素和催乳素在进化和胚胎学上的相似性意味着，在控制生长激素细胞和催乳素细胞中生长激素和催乳素产生的基因上，或在其产物影响垂体前叶共同祖细胞胚胎发育的基因上发生的突变，可能是我们患者的主要缺陷。
