Dutta Deep, Maisnam Indira, Ghosh Sujoy, Mukhopadhyay Satinath, Chowdhury Subhankar
Department of Endocrinology and Metabolism, IPGMER and SSKM Hospital, Kolkata, India.
J Clin Res Pediatr Endocrinol. 2013;5(1):58-61. doi: 10.4274/Jcrpe.857. Epub 2013 Jun 29.
Syndrome of extreme insulin resistance (SEIR) is a rare spectrum disorder with a primary defect in insulin receptor signalling, noted primarily in children, and is often difficult to diagnose due to the clinical heterogeneity.SEIR was diagnosed in an adolescent girl with facial dysmorphism,exuberant scalp and body hair, severe acanthosis, lipoatrophy, dental abnormalities, and short stature (Rabson-Mendenhall phenotype). She had elevated fasting (422.95 pmol/L) and post-glucose insulin levels(>2083 pmol/L). Total body fat was decreased (11%; dual-energy X-ray absorptiometry). Basal growth hormone (GH) was increased (7.9 μg/L)with normal insuline-like growth factor 1 (37.6 nmol/L) suggestive of GH resistance. She had fatty liver and polycystic ovaries. Echocardiography revealed ostium secundum type atrial septal defect (ASD). Blood glucose normalized with pioglitazone (30 mg/day). Delayed development, severe insulin resistance, mild hyperglycemia, absence of ketosis, and remarkable response of hyperinsulinemia and hyperglycemia to pioglitazone which persisted even after 1 year of diagnosis are some of the notable features of this patient. This is perhaps the first report of occurrence of congenital heart disease (ASD) in a patient of SEIR (Rabson-Mendenhall phenotype). This report highlights the clinical features of SEIR and the role of insulin sensitizers like pioglitazone in the management of such patients.
极端胰岛素抵抗综合征（SEIR）是一种罕见的谱系障碍，主要缺陷在于胰岛素受体信号传导，主要见于儿童，由于临床异质性，往往难以诊断。一名患有面部畸形、头皮和身体毛发旺盛、严重棘皮症、脂肪萎缩、牙齿异常和身材矮小（拉布森 - 门登霍尔表型）的青春期女孩被诊断为SEIR。她的空腹胰岛素水平升高（422.95 pmol/L），葡萄糖后胰岛素水平升高（>2083 pmol/L）。全身脂肪减少（11%；双能X线吸收法）。基础生长激素（GH）升高（7.9 μg/L），胰岛素样生长因子1正常（37.6 nmol/L），提示存在GH抵抗。她患有脂肪肝和多囊卵巢。超声心动图显示继发孔型房间隔缺损（ASD）。使用吡格列酮（30 mg/天）后血糖恢复正常。发育迟缓、严重胰岛素抵抗、轻度高血糖、无酮症以及高胰岛素血症和高血糖对吡格列酮有显著反应且在诊断后1年仍持续存在，这些都是该患者的一些显著特征。这可能是首例关于SEIR（拉布森 - 门登霍尔表型）患者发生先天性心脏病（ASD）的报告。本报告强调了SEIR的临床特征以及胰岛素增敏剂如吡格列酮在这类患者管理中的作用。
