Division of Endocrinology, The Johns Hopkins University School of Medicine, 1830 East Monument Street, Suite 333, Baltimore, Maryland 21287, USA.
J Clin Endocrinol Metab. 2010 Feb;95(2):714-21. doi: 10.1210/jc.2009-1879. Epub 2009 Dec 4.
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.
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.
We measured longevity.
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.
In a selected genetic background, lifelong untreated IGHD does not affect longevity.
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，尚不清楚是 GHD 还是其他混杂因素导致了这种早期死亡。
本研究旨在研究由于生长激素释放激素受体基因纯合突变导致的终生孤立性 GHD（IGHD）的大型家族中受试者的寿命，并研究杂合突变携带者的寿命。
设计、地点和参与者：我们对三组人群进行了回顾性队列研究。我们首先比较了 65 名 IGHD 个体及其来自 34 个家族的 128 名无影响的兄弟姐妹的死亡风险。然后，我们比较了 IGHD 的平均死亡年龄与普通人群的平均死亡年龄。进行了一项横断面研究，以比较同一县的两组年轻（20-40 岁）和老年（60-80 岁）正常外观的受试者中该突变的杂合率。
我们测量了寿命。
IGHD 受试者的死亡风险与他们的兄弟姐妹没有差异。IGHD 个体的寿命短于普通人群。按性别分层时，这种差异仅在女性中持续存在，因为 4-20 岁的 IGHD 女性死亡频率较高。当分析达到 20 岁的受试者时，IGHD 受试者与兄弟姐妹或普通人群的寿命没有差异。年轻组和老年组的杂合率无显着差异，表明没有生存优势或劣势。
在特定的遗传背景下，终生未经治疗的 IGHD 不会影响寿命。
