Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene.
Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene.
复制标题
由于 GHRH 受体基因纯合突变导致严重、未经治疗的先天性 GH 缺乏症，导致严重身材矮小的成年人的腹部器官大小。
DOI：
10.1111/j.1365-2265.2007.03148.x
复制
发表时间：
2008
影响因子：
3.2
通讯作者：
Aguiar-Oliveira,ManuelH
中科院分区：
文献类型：
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作者：
Oliveira,CarlaRP;Salvatori,Roberto;Nóbrega,LucianaMA;Carvalho,ErickOM;Menezes,Menilson;Farias,CatarineT;Britto,AllanVO;Pereira,RossanaMC;Aguiar-Oliveira,ManuelH
目的探讨先天性单纯生长激素缺乏症（IGHD）患者腹腔内器官大小与身高、体表面积（BSA）的关系。18例从未接受过GH替代治疗的IGHD成人受试者（8例女性，IGHD组）的腹腔内器官（绝对值和经身高、体重和BSA校正的值）。他们都是GHRH受体基因（GHRH-R）中相同无效突变（IVS 1 + 1G → A）的纯合子。他们进行了比较与正常对照组从同一region.ResultsAfter校正BSA，受试者缺乏功能GHRH-R有正常的前列腺和卵巢大小，小脾脏和子宫，大肝脏，胰腺和kidney.ConclusionsSize的个别腹部器官的影响，在不同的方式严重和先天性缺乏生长激素由于aGHRH-R突变。
ObjectiveTo assess the sizes of intra‐abdominal organs of adult subjects with untreated severe congenital isolated GH deficiency (IGHD) due to lack of functional GHRH receptor (GHRH‐R), and to verify whether there is proportionality between size of organ and adult stature and body surface area (BSA).Subjects and methodsBy using ultrasound, we studied the sizes (absolute and corrected by height, weight and BSA) of the intra‐abdominal organs of 18 adult subjects with IGHD (eight females, IGHD group) who have never received GH replacement therapy. They were all homozygous for the same null mutation (IVS1 + 1G → A) in the GHRH receptor gene (GHRH‐R). They were compared with normal controls from the same region.ResultsAfter correction for BSA, subjects lacking a functional GHRH‐R have normal prostate and ovaries size, small spleen and uterus, and large liver, pancreas and kidney.ConclusionsSize of individual abdominal organs is influenced in different ways by severe and congenital lack of GH due to aGHRH‐Rmutation.