Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Front Neuroendocrinol. 2019 Jan;52:113-143. doi: 10.1016/j.yfrne.2018.11.001. Epub 2018 Nov 15.
Individuals with acromegaloid physical appearance or tall stature may be referred to endocrinologists to exclude growth hormone (GH) excess. While some of these subjects could be healthy individuals with normal variants of growth or physical traits, others will have acromegaly or pituitary gigantism, which are, in general, straightforward diagnoses upon assessment of the GH/IGF-1 axis. However, some patients with physical features resembling acromegaly - usually affecting the face and extremities -, or gigantism - accelerated growth/tall stature - will have no abnormalities in the GH axis. This scenario is termed pseudoacromegaly, and its correct diagnosis can be challenging due to the rarity and variability of these conditions, as well as due to significant overlap in their characteristics. In this review we aim to provide a comprehensive overview of pseudoacromegaly conditions, highlighting their similarities and differences with acromegaly and pituitary gigantism, to aid physicians with the diagnosis of patients with pseudoacromegaly.
具有肢端肥大症样外貌或身材高大的个体可能会被转介给内分泌科医生以排除生长激素(GH)过多。虽然这些受试者中的一些可能是具有正常生长或身体特征变异的健康个体,但其他个体将患有肢端肥大症或垂体巨人症,这些疾病通常在评估 GH/IGF-1 轴后可以直接诊断。然而,一些具有类似肢端肥大症的外貌特征的患者 - 通常影响面部和四肢 - 或巨人症 - 生长加速/身材高大 - 在 GH 轴上没有异常。这种情况被称为假性肢端肥大症,由于这些病症的罕见性和变异性,以及其特征的显著重叠,正确诊断具有挑战性。在这篇综述中,我们旨在全面概述假性肢端肥大症的情况,突出其与肢端肥大症和垂体巨人症的异同,以帮助医生诊断假性肢端肥大症患者。