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Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up |
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| Authors: | Xiaofei Yin Jidong Liu Ruiying Feng Mingyue Xu Jinbo Liu |
| Affiliation: | 1. Department of Endocrinology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, China Institute of Endocrine and Metabolic Diseases, Shandong University, Jinan, China Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, China;2. Department of Endocrinology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, China |
| 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. |
| Keywords: | Insulin resistance PIK3R1 SHORT syndrome |