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

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 resis...

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Detalles Bibliográficos
Autores principales: Yin, Xiaofei, Liu, Jidong, Feng, Ruiying, Xu, Mingyue, Liu, Jinbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504897/
https://www.ncbi.nlm.nih.gov/pubmed/33742773
http://dx.doi.org/10.1111/jdi.13549
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author Yin, Xiaofei
Liu, Jidong
Feng, Ruiying
Xu, Mingyue
Liu, Jinbo
author_facet Yin, Xiaofei
Liu, Jidong
Feng, Ruiying
Xu, Mingyue
Liu, Jinbo
author_sort Yin, Xiaofei
collection PubMed
description 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.
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spelling pubmed-85048972021-10-18 Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up Yin, Xiaofei Liu, Jidong Feng, Ruiying Xu, Mingyue Liu, Jinbo J Diabetes Investig Case Reports 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. John Wiley and Sons Inc. 2021-04-07 2021-10 /pmc/articles/PMC8504897/ /pubmed/33742773 http://dx.doi.org/10.1111/jdi.13549 Text en © 2021 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Yin, Xiaofei
Liu, Jidong
Feng, Ruiying
Xu, Mingyue
Liu, Jinbo
Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
title Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
title_full Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
title_fullStr Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
title_full_unstemmed Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
title_short Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
title_sort novel pik3r1 mutation of short syndrome: a case report with a 6‐month follow up
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504897/
https://www.ncbi.nlm.nih.gov/pubmed/33742773
http://dx.doi.org/10.1111/jdi.13549
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