Purpose of Review

This review describes the unique pathogenesis of SHORT syndrome, a rare genetic form of insulin resistance syndrome, and recent advances in understanding the underlying mechanisms. SHORT syndrome results from dysfunction of PI3K, but the mechanisms behind the clinical manifestations are not entirely understood. Elucidating these mechanisms may contribute to the understanding of the roles of insulin signaling and PI3K signaling in humans. There are paucity of data on treatment and outcomes.

Recent Findings

The clinical spectrum of the disorder appears wider than previously understood, and overlaps with other clinical syndromes. PI3K malfunction is associated with insulin resistance, decreased lipogenesis, increased energy expenditure, and possible IGF1 resistance.

Summary

SHORT syndrome may be underdiagnosed, and should be considered in individuals with growth failure, craniofacial dysmorphism, and lipodystrophy. Much is still unknown about the optimal management and long-term outcomes.

中文翻译：

---

SHORT 综合征：发病机制和临床谱的更新

审查目的

这篇综述描述了 SHORT 综合征（一种罕见的胰岛素抵抗综合征的遗传形式）的独特发病机制，以及了解其潜在机制的最新进展。SHORT 综合征是由 PI3K 功能障碍引起的，但其临床表现背后的机制尚不完全清楚。阐明这些机制可能有助于理解胰岛素信号和 PI3K 信号在人类中的作用。关于治疗和结果的数据很少。

最近的发现

该疾病的临床范围似乎比以前理解的要广，并且与其他临床综合征重叠。PI3K 功能障碍与胰岛素抵抗、脂肪生成减少、能量消耗增加以及可能的 IGF1 抵抗有关。

概括

SHORT 综合征可能未被充分诊断，在患有生长障碍、颅面畸形和脂肪代谢障碍的个体中应考虑。关于最佳管理和长期结果，仍有很多未知数。