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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.

SUBMITTER: Yin X

PROVIDER: S-EPMC8504897 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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

Yin Xiaofei X Liu Jidong J Feng Ruiying R Xu Mingyue M Liu Jinbo J

Journal of diabetes investigation 20210407 10

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, w ...[more]

PMID: 33742773

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