PDF(Pubmed)
Abstract：
UNASSIGNED: Rabson-Mendenhall syndrome (RMS) is a rare autosomal, recessive disorder characterized by severe insulin resistance due to mutations in the insulin receptor (INSR) gene. This study aims to analyze the clinical features and gene mutations in RMS, which have not been extensively studied.
UNASSIGNED: PubMed, Embase, the China National Knowledge Infrastructure, and Wanfang were searched for \"Rabson-Mendenhall syndrome\" or \"Black acanthosis hirsutism insulin resistance syndrome.\"
UNASSIGNED: A total of 42 cases from 33 articles were included. The body mass index ranged from 18.50 to 20.00 kg/m2 with an average of 16.00 kg/m2. There were no overweight (25.00∼29.90 kg/m2) or obese (≥30.00 kg/m2) patients. Acanthosis was present in 29 cases (29/42, 69.05%); growth retardation in 25 cases (25/42, 59.52%); dental anomalies including absence of teeth, crowding, and malocclusion in 23 cases (23/42, 54.76%); and hirsutism in 17 cases (17/42, 40.48%). The average glycosylated hemoglobin was 9.35%, and the average fasting blood-glucose was 8.44 mmol/L; the mean fasting insulin was 349.96 μIU/mL, and the average fasting C-peptide was 6.00 ng/mL. Diabetes was reported in 25 cases (25/33, 75.76%) all of which were diagnosed before 23 years old. All 42 patients had recorded gene mutations, with 22 patients (22/42, 52.38%) having ≥ 2 mutations and 20 cases (20/42, 47.62%) having only 1 mutation. No statistical differences were found in clinical features and laboratory parameters between patients with different mutations.
UNASSIGNED: The study indicates that RMS should be considered in young patients with hyperinsulinemia, hyperglycemia with low weight, acanthosis nigricans, growth retardation, dental anomalies, and hirsutism.
UNASSIGNED: PubMed, Embase, the China National Knowledge Infrastructure, and Wanfang were searched for \"Rabson-Mendenhall syndrome\" or \"Black acanthosis hirsutism insulin resistance syndrome.\"
UNASSIGNED: A total of 42 cases from 33 articles were included. The body mass index ranged from 18.50 to 20.00 kg/m2 with an average of 16.00 kg/m2. There were no overweight (25.00∼29.90 kg/m2) or obese (≥30.00 kg/m2) patients. Acanthosis was present in 29 cases (29/42, 69.05%); growth retardation in 25 cases (25/42, 59.52%); dental anomalies including absence of teeth, crowding, and malocclusion in 23 cases (23/42, 54.76%); and hirsutism in 17 cases (17/42, 40.48%). The average glycosylated hemoglobin was 9.35%, and the average fasting blood-glucose was 8.44 mmol/L; the mean fasting insulin was 349.96 μIU/mL, and the average fasting C-peptide was 6.00 ng/mL. Diabetes was reported in 25 cases (25/33, 75.76%) all of which were diagnosed before 23 years old. All 42 patients had recorded gene mutations, with 22 patients (22/42, 52.38%) having ≥ 2 mutations and 20 cases (20/42, 47.62%) having only 1 mutation. No statistical differences were found in clinical features and laboratory parameters between patients with different mutations.
UNASSIGNED: The study indicates that RMS should be considered in young patients with hyperinsulinemia, hyperglycemia with low weight, acanthosis nigricans, growth retardation, dental anomalies, and hirsutism.
摘要：
■Rabson-Mendenhall综合征（RMS）是一种罕见的常染色体，以胰岛素受体（INSR）基因突变导致的严重胰岛素抵抗为特征的隐性疾病。本研究旨在分析RMS的临床特征和基因突变,尚未被广泛研究。
■PubMed,Embase,中国国家知识基础设施，和万方搜索“拉布森-门登霍尔综合征”或“黑棘皮病多毛症胰岛素抵抗综合征”。\"
■共纳入33篇文章中的42例。体重指数为18.50~20.00kg/m2,平均16.00kg/m2。无超重(25.00～29.90kg/m2)或肥胖(≥30.00kg/m2)患者。棘皮病29例(29/42,69.05%);生长迟缓25例(25/42,59.52%);牙齿异常包括缺牙,拥挤,错牙合23例(23/42,54.76%);多毛17例(17/42,40.48%)。糖化血红蛋白平均为9.35%,平均空腹血糖为8.44mmol/L;平均空腹胰岛素为349.96μIU/mL,平均空腹C肽为6.00ng/mL。糖尿病25例(25/33,75.76%)均在23岁以前确诊。所有42例患者都有基因突变记录，其中22例（22/42，52.38％）具有≥2个突变，20例（20/42，47.62％）仅具有1个突变。不同突变患者的临床特征和实验室指标无统计学差异。
■该研究表明，高胰岛素血症的年轻患者应考虑RMS，低体重的高血糖症，黑棘皮病,生长迟缓,牙齿异常,和多毛症。
■PubMed,Embase,中国国家知识基础设施，和万方搜索“拉布森-门登霍尔综合征”或“黑棘皮病多毛症胰岛素抵抗综合征”。\"
■共纳入33篇文章中的42例。体重指数为18.50~20.00kg/m2,平均16.00kg/m2。无超重(25.00～29.90kg/m2)或肥胖(≥30.00kg/m2)患者。棘皮病29例(29/42,69.05%);生长迟缓25例(25/42,59.52%);牙齿异常包括缺牙,拥挤,错牙合23例(23/42,54.76%);多毛17例(17/42,40.48%)。糖化血红蛋白平均为9.35%,平均空腹血糖为8.44mmol/L;平均空腹胰岛素为349.96μIU/mL,平均空腹C肽为6.00ng/mL。糖尿病25例(25/33,75.76%)均在23岁以前确诊。所有42例患者都有基因突变记录，其中22例（22/42，52.38％）具有≥2个突变，20例（20/42，47.62％）仅具有1个突变。不同突变患者的临床特征和实验室指标无统计学差异。
■该研究表明，高胰岛素血症的年轻患者应考虑RMS，低体重的高血糖症，黑棘皮病,生长迟缓,牙齿异常,和多毛症。
