Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK.
Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal.
J Clin Endocrinol Metab. 2022 May 17;107(6):1767-1788. doi: 10.1210/clinem/dgab789.
Pseudoacromegaly encompasses a heterogeneous group of conditions in which patients have clinical features of acromegaly or gigantism, but no excess of GH or IGF-1. Acromegaloid physical features or accelerated growth in a patient may prompt referral to endocrinologists. Because pseudoacromegaly conditions are rare and heterogeneous, often with overlapping clinical features, the underlying diagnosis may be challenging to establish. As many of these have a genetic origin, such as pachydermoperiostosis, Sotos syndrome, Weaver syndrome, or Cantú syndrome, collaboration is key with clinical geneticists in the diagnosis of these patients. Although rare, awareness of these uncommon conditions and their characteristic features will help their timely recognition.
假性肢端肥大症包括一组异质性疾病，这些疾病的患者具有肢端肥大症或巨人症的临床特征，但 GH 或 IGF-1 并不过量。患者出现肢端肥大症的身体特征或生长加速可能会促使他们向内分泌科医生就诊。由于假性肢端肥大症的情况较为罕见且异质性，通常具有重叠的临床特征，因此确定潜在诊断可能具有挑战性。由于许多此类疾病具有遗传起源，例如厚皮骨膜病、Sotos 综合征、Weaver 综合征或 Cantú 综合征，因此在诊断这些患者时，与临床遗传学家的合作至关重要。尽管罕见，但对这些罕见疾病及其特征的认识将有助于及时识别它们。
