Almotawa Fahad, Mushiba Aziza M, Alqahtani Nora, Mashi Abdulrahman
College of Medicine, University of Bisha, Bisha, SAU.
General Pediatrics, King Fahad Medical City, Riyadh, SAU.
Cureus. 2025 Mar 25;17(3):e81190. doi: 10.7759/cureus.81190. eCollection 2025 Mar.
Rabson-Mendenhall syndrome (RMS) is a rare genetic condition marked by severe insulin resistance, leading to persistent hyperglycemia that can sometimes be misdiagnosed as type 1 diabetes mellitus (T1DM). This case report details a 34-year-old male who was referred to a tertiary center for genetic evaluation to rule out insulin resistance syndrome. The patient had been diagnosed with T1DM since childhood, struggling to control his hyperglycemia despite high doses of insulin. Physical examination revealed acanthosis nigricans, prognathism, and other dysmorphic features. Genetic testing identified pathogenic variants in the insulin receptor (INSR) gene, confirming the diagnosis of RMS. Insulin resistance syndromes are prone to misdiagnosis, so a thorough patient history and careful physical examination are essential in distinguishing T1DM from insulin resistance syndrome. This is the first documented case of RMS in Saudi Arabia, and we emphasize the clinical findings and genetic confirmation in this patient.
拉布森-门登霍尔综合征（RMS）是一种罕见的遗传性疾病，其特征为严重的胰岛素抵抗，导致持续性高血糖，有时可能被误诊为1型糖尿病（T1DM）。本病例报告详细介绍了一名34岁男性，他被转诊至一家三级中心进行基因评估，以排除胰岛素抵抗综合征。该患者自童年起就被诊断为T1DM，尽管使用了高剂量胰岛素，仍难以控制其高血糖。体格检查发现黑棘皮症、突颌及其他畸形特征。基因检测确定了胰岛素受体（INSR）基因中的致病变异，确诊为RMS。胰岛素抵抗综合征容易误诊，因此详尽的患者病史和仔细的体格检查对于区分T1DM和胰岛素抵抗综合征至关重要。这是沙特阿拉伯首例有记录的RMS病例，我们强调了该患者的临床发现和基因确诊情况。
