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生长激素释放激素受体基因失活突变的成年受试者的眼部表现

Ocular findings in adult subjects with an inactivating mutation in GH releasing hormone receptor gene.

作者信息

Faro Augusto C N, Pereira-Gurgel Virginia M, Salvatori Roberto, Campos Viviane C, Melo Gustavo B, Oliveira Francielle T, Oliveira-Santos Alecia A, Oliveira Carla R P, Pereira Francisco A, Hellström Ann, Oliveira-Neto Luís A, Valença Eugenia H O, Aguiar-Oliveira Manuel H

机构信息

Division of Ophthalmology, Federal University of Sergipe, Aracaju, SE, Brazil.

Division of Endocrinology, Federal University of Sergipe, Aracaju, SE, Brazil.

出版信息

Growth Horm IGF Res. 2017 Jun;34:8-12. doi: 10.1016/j.ghir.2017.04.002. Epub 2017 Apr 21.

DOI:10.1016/j.ghir.2017.04.002
PMID:28456063
Abstract

OBJECTIVE

Ocular function is fundamental for environmental adaptation and survival capacity. Growth factors are necessary for a mature eyeball, needed for adequate vision. However, the consequences of the deficiency of circulating growth hormone (GH) and its effector insulin-like growth factor I (IGF-I) on the physical aspects of the human eye are still debated. A model of untreated isolated GH deficiency (IGHD), with low but measurable serum GH, may clarify this issue. The aim of this study was to assess the ocular aspects of adult IGHD individuals who have never received GH therapy.

DESIGN

Cross sectional study.

METHODS

Setting: University Hospital, Federal University of Sergipe, Brazil.

PATIENTS

Twenty-five adult (13 males, mean age 50.1years, range 26 to 70years old) IGHD subjects homozygous for a null mutation (c.57+1G>A) in the GHRH receptor gene, and 28 (15 males, mean age 51.1years, range 26 to 67years old) controls were submitted to an endocrine and ophthalmological assessment. Forty-six IGHD and 50 control eyes were studied.

MAIN OUTCOME MEASURES

Visual acuity, intraocular pressure, refraction (spherical equivalent), ocular axial length (AL), anterior chamber depth (ACD), lens thickness (LT), vitreous depth (VD), mean corneal curvature (CC) and central corneal thickness (CCT).

RESULTS

IGHD subjects exhibited unmeasurable serum IGF-I levels, similar visual acuity, intraocular pressure and LT, higher values of spherical equivalent and CC, and lower measures of AL, ACD, VD and CCT in comparison to controls, but within their respective normal ranges. While mean stature in IGHD group was 78% of the control group, mean head circumference was 92% and axial AL was 96%.

CONCLUSIONS

These observations suggest mild ocular effects in adult subjects with severe IGF-I deficiency due to non-treated IGHD.

摘要

目的

眼功能对于环境适应和生存能力至关重要。生长因子对于成熟眼球是必需的,是良好视力所需要的。然而,循环生长激素(GH)及其效应因子胰岛素样生长因子I(IGF-I)缺乏对人眼物理方面的影响仍存在争议。未经治疗的孤立性生长激素缺乏症(IGHD)模型,其血清GH水平低但可测量,可能会阐明这个问题。本研究的目的是评估从未接受过GH治疗的成年IGHD个体的眼部情况。

设计

横断面研究。

方法

地点:巴西塞尔希培联邦大学大学医院。

患者

25名成年(13名男性,平均年龄50.1岁,范围26至70岁)IGHD受试者,其生长激素释放激素(GHRH)受体基因存在纯合无效突变(c.57+1G>A),以及28名(15名男性,平均年龄51.1岁,范围26至67岁)对照者接受了内分泌和眼科评估。研究了46只IGHD眼和50只对照眼。

主要观察指标

视力、眼压、屈光(等效球镜)、眼轴长度(AL)、前房深度(ACD)、晶状体厚度(LT)、玻璃体深度(VD)、平均角膜曲率(CC)和中央角膜厚度(CCT)。

结果

与对照组相比,IGHD受试者的血清IGF-I水平无法测量,视力、眼压和LT相似,等效球镜和CC值较高,而AL、ACD、VD和CCT测量值较低,但均在各自的正常范围内。IGHD组的平均身高为对照组的78%,平均头围为92%,眼轴AL为96%。

结论

这些观察结果表明,由于未经治疗的IGHD导致严重IGF-I缺乏的成年受试者存在轻度眼部影响。

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