Muñoz Calvo M T, Ceñal González M J, Parra Martínez I, Hervás Olivares F, Nieto Cuartero J A, Lestache R G
An Esp Pediatr. 1981 Nov;15(5):498-502.
A case of Smith-Lemli-Opitz syndrome is reported in an 8 year old boy of related parents. He presented clinical features of the syndrome, with a normal male karyotype, distal axial triradii and increased number of whorl dermatoglyphic. Cerebral T.A.C. revealed an hypodensity zone in the left cerebral hemisphere. Authors studied the hypotalamo-pituitary axis finding a normal secretion of FSH and LH. The secretion of TSH and PRL under TRH stimulation showed an enhanced response. Plasma GH response to insulin induced hypoglycemia plus L-arginine was within normal limits.
本文报道了一例患有史密斯-勒米-奥皮茨综合征的8岁男孩，其父母为近亲。他表现出该综合征的临床特征，具有正常的男性核型、远端轴三叉点和增多的涡状皮纹。脑部计算机断层扫描显示左脑半球有一个低密度区。作者研究了下丘脑-垂体轴，发现促卵泡生成素（FSH）和促黄体生成素（LH）分泌正常。促甲状腺激素释放激素（TRH）刺激下促甲状腺激素（TSH）和催乳素（PRL）的分泌显示反应增强。血浆生长激素（GH）对胰岛素诱导的低血糖加L-精氨酸的反应在正常范围内。
