强迫症与沃尔夫拉姆综合征的生长和青春期发育迟缓:新的方面和一种新的 WFS1 基因突变。

IF 0.7 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM
Acta Endocrinologica-Bucharest Pub Date : 2024-01-01 Epub Date: 2024-10-03 DOI:10.4183/aeb.2024.107
H Manyas, B Eroğlu Filibeli, I Ayrancı, Ö Kırbıyık, G Catli, B N Dundar
{"title":"强迫症与沃尔夫拉姆综合征的生长和青春期发育迟缓:新的方面和一种新的 WFS1 基因突变。","authors":"H Manyas, B Eroğlu Filibeli, I Ayrancı, Ö Kırbıyık, G Catli, B N Dundar","doi":"10.4183/aeb.2024.107","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS.</p><p><strong>Case report: </strong>The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers' diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth.</p><p><strong>Conclusion: </strong>Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"20 1","pages":"107-112"},"PeriodicalIF":0.7000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449251/pdf/","citationCount":"0","resultStr":"{\"title\":\"OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION.\",\"authors\":\"H Manyas, B Eroğlu Filibeli, I Ayrancı, Ö Kırbıyık, G Catli, B N Dundar\",\"doi\":\"10.4183/aeb.2024.107\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS.</p><p><strong>Case report: </strong>The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers' diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth.</p><p><strong>Conclusion: </strong>Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.</p>\",\"PeriodicalId\":50902,\"journal\":{\"name\":\"Acta Endocrinologica-Bucharest\",\"volume\":\"20 1\",\"pages\":\"107-112\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449251/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Endocrinologica-Bucharest\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4183/aeb.2024.107\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/3 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Endocrinologica-Bucharest","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4183/aeb.2024.107","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/3 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0

摘要

简介:沃尔夫拉姆综合征(WS)是一种罕见的常染色体隐性遗传疾病:沃尔夫拉姆综合征(WS)是一种罕见的常染色体隐性遗传疾病,其特征是青少年期发病的糖尿病(DM)、尿崩症、视神经萎缩(OA)、听力损失和神经变性。本报告描述了三个患有 WS 的病例:第一个病例分别在 6 岁和 11 岁时被诊断出患有 DM 和 OA。第二例患者是第一例患者的兄弟姐妹,也患有 DM,在其兄弟确诊后接受了 WS 检查。第三名患者在 5 岁时被诊断出患有 DM,并分别在 7 岁和 12 岁时出现双侧感音神经性听力损失和 OA。所有患者的初步诊断均通过 WFS1 基因的 Sanger 测序得到证实。结果发现了两个以前报道过的基因突变和一个新的基因突变。据我们所知,第一例患者被诊断患有先前在 WS 患者中描述过的注意缺陷多动障碍,而第二例患者的强迫症则是先前在 WS 患者中从未报道过的。我们在第一例患者中发现了青春期延迟,并被诊断为青春期和生长发育的宪法性延迟:结论:早期诊断 WS 可以及早发现相关病症,减少并发症、发病率和死亡率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION.

Introduction: Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS.

Case report: The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers' diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth.

Conclusion: Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Acta Endocrinologica-Bucharest
Acta Endocrinologica-Bucharest 医学-内分泌学与代谢
CiteScore
1.30
自引率
20.00%
发文量
53
审稿时长
6-12 weeks
期刊介绍: Acta Endocrinologica (Buc) is an international journal covering the fields of basic and clinical Endocrinology, Neuroendocrinology, Reproductive Medicine, Chronobiology, Human Ethology published quarterly Acta Endocrinologica (Buc) is the official international journal of the Romanian Society for Endocrinology. It continues the former Romanian Journal of Endocrinology
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信