拉伦侏儒症的临床特征——来自钦奈一家三级护理机构的经验。

Clinical profile of Laron dwarfism - experience from a tertiary care institute in Chennai.

机构信息

Department of Paediatrics, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India.

出版信息

J Pediatr Endocrinol Metab. 2023 Mar 23;36(5):466-469. doi: 10.1515/jpem-2022-0538. Print 2023 May 25.

DOI:10.1515/jpem-2022-0538

PMID:36957988

Abstract

OBJECTIVES

Laron dwarfism is a rare genetic disorder first reported among Israeli jewish children, subsequently about 350 cases cases have been reported worldwide. We aim to describe the clinical profile of nine children with Laron dwarfism from Institute of Child Health, Chennai.

METHODS

Analysis of case records from 2010 to 2018.

RESULTS

Male:female ratio is 6:3. Mean age of the children at the time of diagnosis was 3 years. All children were extremely short, and mean height Z score (SD) was -7.7(0.8). All children had characteristic facies with no hypoglycaemic episodes. Microcephaly was present in four children out of which two had developmental delay. Three out of six boys had micropenis. All children had low insulin like growth factor-1 (IGF-1) and high basal growth hormone (GH) with a mean (SD) of 39.6 (11.2) ng/mL.

CONCLUSIONS

Suspicion of Laron syndrome should be high when child presents with features of Growth Hormone Deficiency (GHD) with extreme stunting.

摘要

目的

拉龙侏儒症是一种罕见的遗传性疾病，最初在以色列犹太儿童中报告，随后在全球约报告了 350 例病例。我们旨在描述来自钦奈儿童健康研究所的 9 例拉龙侏儒症患儿的临床特征。

方法

对 2010 年至 2018 年的病例记录进行分析。

结果

男女比例为 6:3。诊断时儿童的平均年龄为 3 岁。所有儿童均极度矮小，平均身高 Z 评分（SD）为-7.7（0.8）。所有儿童均有特征性面容，无低血糖发作。四名儿童中有四名存在小头畸形，其中两名存在发育迟缓。六名男孩中有三名存在小阴茎。所有儿童的胰岛素样生长因子-1（IGF-1）均较低，基础生长激素（GH）较高，平均（SD）分别为 39.6（11.2）ng/mL。