SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum

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 manifestation...

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Bibliographic Details
Published in:Current diabetes reports 2022-12, Vol.22 (12), p.571-577
Main Author: Shvalb, Naama Fisch
Format: Article
Language:English
Subjects:
Body fat
Cysts
Diabetes
Growth factors
Humans
Hypercalcemia
Insulin resistance
Insulin Resistance - genetics
Kinases
Medicine
Medicine & Public Health
Metabolism
Mutation
Nephrocalcinosis
Ovaries
Pathogenesis
Pediatric Type 2 and Monogenic Diabetes (O Pinhas-Hamiel
Pediatrics
Phosphatase
Phosphatidylinositol 3-Kinases
Phosphorylation
Proteins
Section Editor
Signal transduction
Topical Collection on Pediatric Type 2 and Monogenic Diabetes
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Summary: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.
ISSN:1534-4827
1539-0829
DOI:10.1007/s11892-022-01495-8