Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.

Abstract

SHORT syndrome (short stature, hyperextensibility, ocular depression [deeply set eyes], Rieger anomaly and teething delay) is very rare, with a few cases reported in the literature. We report a case of SHORT syndrome with a novel PIK3R1 mutation (c.2008delT) and complicated with severe insulin resistance. Although no treatment guidelines are available to relieve insulin resistance in SHORT syndrome, our treatment plans, including lifestyle intervention combined with metformin and pioglitazone, were carried out for this patient. After the intervention, insulin resistance and hyperinsulinemia in this patient were significantly decreased during a 6-month follow up, which showed the effect of our therapeutic strategies.

• Authors: Xiaofei Yin, Jidong Liu, Ruiying Feng, Mingyue Xu, Jinbo Liu
• Journal: Journal of diabetes investigation (J Diabetes Investig) Vol. 12 Issue 10 Pg. 1919-1922 (Oct 2021) ISSN: 2040-1124 [Electronic] Japan
• PMID: 33742773 (Publication Type: Case Reports)
• Copyright: © 2021 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.

Chemical References

• PIK3R1 protein, human
• Class Ia Phosphatidylinositol 3-Kinase

Topics

• Child
• Class Ia Phosphatidylinositol 3-Kinase (genetics)
• Growth Disorders (genetics)
• Humans
• Hypercalcemia (genetics)
• Insulin Resistance
• Male
• Metabolic Diseases (genetics)
• Mutation
• Nephrocalcinosis (genetics)