Can Kallmann syndrome be occasionally diagnosed during childhood？ Genetic diagnosis in a child with associated renal agenesis and mirror movements

作     者：Neoklis A. Georgopoulos Vasiliki Koika Petros Vamavas Alexandra Eflhymiadou Dimitra J. Marioli Stefanos Mantagos Dionysios Chrysis 

作者机构：Department of Obstetrics and Gynecology Division of Reproductive Endocrinology University of Patras Medical School Rio 26500 Greece Department of Pediatrics Division of Endocrinology University of Patras Medical School Rio 26500 Greece Department of Pediatrics University of Patras Medical School Rio26500 Greece 

出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)

年 卷 期：2009年第11卷第4期

页      面：521-523页

核心收录：

学科分类：0711[理学-系统科学] 07[理学] 0905[农学-畜牧学] 08[工学] 09[农学] 081101[工学-控制理论与控制工程] 0811[工学-控制科学与工程] 071102[理学-系统分析与集成] 081103[工学-系统工程] 

基　　金：the Hellenic Endocrine Society (Athens  Greece) 

主　　题：no english key word 

摘      要：Dear Sir, I am Neoklis A. Georgopoulos, from Department of Obstetrics and Gynaecology, Division of Reproductive Endocrinology, University of Patras Medical School, Greece. We present an early prepubertal diagnosis of Kallmann syndrome （KS） in a child with anosmia, renal agenesis and mirror movements. KS is a congenital defect characterized by the presence of hypogonadotropic hypogonadism and anosmia or hyposmia [1]. Besides hypogonadism and anosmia, the clinical phenotype is characterized by the presence of other associated features, including, among others, mirror movements （synkinesis）, cleft palate and renal agenesis/ dysgenesis.