Division of Endocrinology Federal University of Sergipe Aracaju, Sergipe, 49060-100 Brazil.
Endocr Connect. 2013 Jun 15;2(2):112-7. doi: 10.1530/EC-13-0014. Print 2013 Jun 1.
Adult subjects with untreated, lifetime, isolated GH deficiency (IGHD) due to a homozygous GHRH receptor gene mutation (MUT/MUT) residing in Itabaianinha, Brazil, present with lower BMI, higher prevalence of impaired glucose tolerance (IGT), increased insulin sensitivity (IS), and reduced β-cell function (βCF) when compared with non-BMI-matched homozygous normal controls. However, the prevalence of diabetes mellitus (DM) in this cohort is unknown. Comparing their IS and βCF with BMI-matched individuals heterozygous for the same mutation (MUT/N) may be useful to elucidate the role of the GH-IGF1 axis in IS and βCF. The purposes of this work were to verify the prevalence of IGT and DM in adult MUT/MUT subjects from this kindred and to compare IS and βCF in MUT/MUT and MUT/N.
Cross-sectional study.
We studied most (51) of the living IGHD adults of this kindred who are GH naive. The oral glucose tolerance test (OGTT) could be performed in 34 subjects, fasting glucose was measured in 15, while two had a previous diagnosis of DM. The OGTT results of 24 MUT/MUT subjects were compared with those of 25 BMI-matched MUT/N subjects. IS was assessed by homeostatic model assessment of insulin resistance (HOMA-IR), quantitative IS check index, and oral glucose IS index for 2 and 3 h. βCF was assayed by HOMA-β, insulinogenic index, and the area under the curve of insulin:glucose ratio.
The prevalence of DM and IGT in IGHD was 15.68 and 38.23% respectively. IS was increased and βCF was reduced in MUT/MUT in comparison with MUT/N.
Lifetime, untreated IGHD increases IS, impairs βCF, and does not provide protection from diabetes.
巴西伊塔巴亚因哈的 GH 促激素受体基因突变（MUT/MUT）导致的未治疗、终生孤立性 GH 缺乏症（IGHD）的成年患者，与同型合子正常对照相比，体重指数（BMI）较低，葡萄糖耐量受损（IGT）的患病率较高，胰岛素敏感性（IS）增加，β细胞功能（βCF）降低。然而，该队列的糖尿病（DM）患病率尚不清楚。与携带相同突变（MUT/N）的 BMI 匹配个体相比，比较他们的 IS 和 βCF 可能有助于阐明 GH-IGF1 轴在 IS 和 βCF 中的作用。本研究的目的是验证该家族中成年 MUT/MUT 患者 IGT 和 DM 的患病率，并比较 MUT/MUT 和 MUT/N 的 IS 和 βCF。
横断面研究。
我们研究了该家族中大多数（51 位）GH 无反应的 IGHD 成年患者，他们均为 GH 未治疗。34 位受试者进行了口服葡萄糖耐量试验（OGTT），15 位受试者检测了空腹血糖，2 位受试者有糖尿病的既往诊断。将 24 位 MUT/MUT 受试者的 OGTT 结果与 25 位 BMI 匹配的 MUT/N 受试者的结果进行比较。通过稳态模型评估胰岛素抵抗（HOMA-IR）、定量胰岛素敏感性检查指数和 2、3 小时口服葡萄糖 IS 指数评估 IS，通过 HOMA-β、胰岛素原指数和胰岛素：血糖比值曲线下面积评估βCF。
IGHD 的 DM 和 IGT 患病率分别为 15.68%和 38.23%。与 MUT/N 相比，MUT/MUT 的 IS 增加，βCF 降低。
终生、未经治疗的 IGHD 会增加 IS，损害βCF，且不能预防糖尿病。
