Rodofile Federica, Franco Francesca, Buccino Nicoletta, Cogo Paola
Division of Pediatrics, Department of Medicine, University of Udine, 33100 Udine, Italy.
Division of Pediatrics, Department of Medicine, ASUFC Hospital Udine, 33100 Udine, Italy.
JCEM Case Rep. 2024 Aug 1;2(8):luae106. doi: 10.1210/jcemcr/luae106. eCollection 2024 Aug.
Type 1 diabetes mellitus (T1DM) and congenital adrenal hyperplasia (CAH) are 2 complex endocrine disorders with neighboring genetic loci. We present a case of T1DM onset in a 6-year-old child, already affected by 21-hydroxylase deficiency (salt-wasting CAH) diagnosed at 18 days of age, who was referred to our clinic because of typical symptoms of diabetes despite nondiagnostic fasting blood glucose values. Further analysis revealed elevated glycated hemoglobin (HbA1c), low C-peptide, and specific autoantibodies suggesting the diagnosis of T1DM. Although he only started with rapid-acting insulin analogue before meals, he presented spontaneous episodes of hypoglycemia just before the morning hydrocortisone dose, due to an underdosed glucocorticoid intake. Based on continuous glycemic monitoring (CGM), his morning dose was increased and given earlier; then we decided to apply an advanced hybrid closed-loop insulin pump to maintain glycemic time in range above 70%. Fasting glucose in CAH patients can be lower due to underdosed glucocorticoid replacement therapy. HbA1c and CGM can help recognize T1DM onset and evaluate the correct dosage of corticosteroid therapy in CAH patients. New studies are needed to understand the therapeutic approach for a more specific treatment in case of coexistence of these diseases.
1型糖尿病(T1DM)和先天性肾上腺皮质增生症(CAH)是两种具有相邻基因座的复杂内分泌疾病。我们报告一例6岁儿童发生T1DM的病例,该儿童在18日龄时已被诊断为21-羟化酶缺乏症(失盐型CAH),尽管空腹血糖值未确诊,但因糖尿病典型症状转诊至我们诊所。进一步分析显示糖化血红蛋白(HbA1c)升高、C肽降低以及特异性自身抗体,提示T1DM诊断。尽管他仅在餐前开始使用速效胰岛素类似物,但由于糖皮质激素摄入剂量不足,在早晨氢化可的松给药前出现自发性低血糖发作。基于持续血糖监测(CGM),增加了他早晨的剂量并提前给药;然后我们决定应用先进的混合闭环胰岛素泵,以将血糖达标时间维持在70%以上。由于糖皮质激素替代治疗剂量不足,CAH患者的空腹血糖可能较低。HbA1c和CGM有助于识别CAH患者T1DM的发病情况并评估皮质类固醇治疗的正确剂量。需要开展新的研究以了解在这些疾病共存时更具针对性治疗的方法。