Longevity in Untreated Congenital Growth Hormone Deficiency Due to a Homozygous Mutation in the GHRH Receptor Gene
Longevity in Untreated Congenital Growth Hormone Deficiency Due to a Homozygous Mutation in the GHRH Receptor Gene
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DOI：
10.1210/jc.2009-1879
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发表时间：
2010-02-01
影响因子：
5.8
通讯作者：
Salvatori, Roberto
中科院分区：
文献类型：
--
作者：
Aguiar-Oliveira, Manuel H.;Oliveira, Francielle T.;Salvatori, Roberto
背景：在垂体功能减退症中观察到的寿命缩短归因于生长激素缺乏症（GHD）。然而，目前还不清楚是否GHD或其他混杂因素导致这种早期mortals.Objective：目的是研究长寿的主题，从一个大的亲属与未经治疗，终身孤立GHD（IGHD）由于GHRH受体基因纯合突变和杂合子携带者的mutation.Design，设置，和参与者：我们进行了一项回顾性队列研究三组。我们首先比较了来自34个家庭的65名IGHD个体及其128名未受影响的兄弟姐妹的死亡风险。然后，我们将IGHD患者的平均死亡年龄与普通人群进行了比较。我们进行了一项横向研究，以比较两组年轻人（20 - 40岁）和老年人（60 - 80岁）正常出现的受试者从同一county.Main结果Measure的突变杂合率：我们测量longthes.Results：IGHD受试者的死亡风险是没有什么不同，从他们的兄弟姐妹。IGHD个体的寿命短于一般人群。当按性别分层时，这种差异仅在女性中持续存在，因为4 - 20岁女性中IGHD死亡的频率很高。当分析年龄达到20岁的受试者时，IGHD受试者与兄弟姐妹或一般人群之间的寿命没有显著差异。杂合性的患病率在年轻和老年组中没有差异，表明没有生存优势或劣势。结论：在选定的遗传背景下，终身未经治疗的IGHD不影响寿命。（临床内分泌代谢杂志95：714 - 721，2010）
Context: Reduced longevity observed in hypopituitarism has been attributed to GH deficiency (GHD). It is, however, unclear whether GHD or other confounding factors cause this early mortality.Objective: The aim was to study longevity in subjects from a large kindred with untreated, lifetime isolated GHD (IGHD) due to a homozygous mutation in the GHRH receptor gene and in heterozygous carriers of the mutation.Design, Setting, and Participants: We carried out a retrospective cohort study on three groups. We first compared mortality risk of 65 IGHD individuals and their 128 unaffected siblings from 34 families. We then compared mean age of death of the IGHD to the general population. A transversal study was carried out to compare the rate of heterozygosity for the mutation in two groups of young (20-40 yr old) and old (60-80 yr old) normal-appearing subjects from the same county.Main Outcome Measure: We measured longevity.Results: The risk of death of IGHD subjects was not different from their siblings. Life span in IGHD individuals was shorter than the general population. When stratified by sex, this difference persisted only in females, due to a high frequency of IGHD deaths in females aged 4-20. There was no significant difference in life span between IGHD subjects and siblings or the general population when analyzing subjects who reached age 20. The prevalence of heterozygosity did not differ in young and old groups, suggesting no survival advantage or disadvantage.Conclusions: In a selected genetic background, lifelong untreated IGHD does not affect longevity. (J Clin Endocrinol Metab 95: 714-721, 2010)