Open AccessNovel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
Author(s) -
Yin Xiaofei,
Liu Jidong,
Feng Ruiying,
Xu Mingyue,
Liu Jinbo
Publication year - 2021
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.13549
Subject(s) - medicine , insulin resistance , pioglitazone , short stature , metformin , intervention (counseling) , hyperinsulinemia , pediatrics , insulin , diabetes mellitus , type 2 diabetes , endocrinology , psychiatry
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.