朱伯格-马西迪综合征：另一病例报告。

Juberg-Marsidi syndrome: report of an additional case.

作者信息

Tsukahara M, Nasu T, Takihara H, Hattori Y, Nakane H, Kamata K, Mitsui H, Hayashida S

机构信息

Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.

出版信息

Am J Med Genet. 1995 Sep 25;58(4):353-5. doi: 10.1002/ajmg.1320580410.

DOI:10.1002/ajmg.1320580410

PMID:8533845

Abstract

We report on a 2-year-old boy with Juberg-Marsidi syndrome. He has mental retardation, short stature, micropenis, cryptorchidism, and minor facial abnormalities. His Leydig cells responded to the administration of human chorionic gonadotropin and there were positive responses of LH and FSH to the administration of LH-RH. He showed normal weight gain and head circumference which have not been described previously. The association of Juberg-Marsidi syndrome with HbH disease was ruled out in the propositus.

摘要

我们报告了一名患有朱伯格-马尔西迪综合征的2岁男孩。他有智力发育迟缓、身材矮小、小阴茎、隐睾症以及轻微的面部异常。他的睾丸间质细胞对人绒毛膜促性腺激素的给药有反应，并且促黄体生成素（LH）和促卵泡生成素（FSH）对促性腺激素释放激素（LH-RH）的给药有阳性反应。他体重增加和头围正常，这是之前未曾描述过的。先证者中排除了朱伯格-马尔西迪综合征与血红蛋白H病（HbH病）的关联。