Arisaka Osamu, Koyama Satomi, Imataka George, Naganuma Junko, Arisaka Takahiro, Akatsuka Sei
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Department of Gastroenterology, Dokkyo Medical University, Tochigi 321-0293, Japan.
Diseases. 2024 Oct 12;12(10):251. doi: 10.3390/diseases12100251.
We report a rare case highlighting the progression of liver disease in a male patient with idiopathic childhood-onset growth hormone (GH) deficiency. The patient was diagnosed with hypopituitarism at six years old and was treated with thyroxine therapy and GH for his short stature, with testosterone added at the age of 15. GH therapy was discontinued when the patient was 18 years old, but thyroid and testosterone treatments continued. The patient had been taking medication for hyperlipidemia until the age of 30 and was noted to have impaired glucose tolerance at the age of 40, but HbA1c levels remained normal. At the age of 47, esophageal varices were incidentally discovered via endoscopy, revealing liver cirrhosis. Laboratory tests showed liver dysfunction and abnormal lipid levels, and hepatitis viral markers were absent. The patient had no history of drinking alcohol or smoking, and no family history of diabetes. Ultimately, this case demonstrates that metabolic dysfunction-associated steatotic liver disease (MASLD/metabolic dysfunction-associated steatohepatitis (MASH)) is under-recognized in GH deficiency cases and can progress to liver cirrhosis. Therefore, careful evaluation of MASLD/MASH in childhood-onset GH deficiency is necessary, and GH replacement therapy should continue into adulthood, if possible.
我们报告了一例罕见病例，该病例突出显示了一名患有特发性儿童期起病生长激素（GH）缺乏症的男性患者肝病的进展情况。该患者六岁时被诊断为垂体功能减退，因身材矮小接受甲状腺素治疗和生长激素治疗，15岁时添加了睾酮。患者18岁时停止生长激素治疗，但甲状腺和睾酮治疗仍继续。该患者30岁前一直在服用治疗高脂血症的药物，40岁时被发现糖耐量受损，但糖化血红蛋白（HbA1c）水平仍正常。47岁时，通过内镜检查偶然发现食管静脉曲张，提示肝硬化。实验室检查显示肝功能障碍和血脂异常，且无肝炎病毒标志物。该患者无饮酒或吸烟史，也无糖尿病家族史。最终，该病例表明，在生长激素缺乏症病例中，代谢功能障碍相关脂肪性肝病（MASLD/代谢功能障碍相关脂肪性肝炎（MASH））未得到充分认识，且可进展为肝硬化。因此，有必要对儿童期起病的生长激素缺乏症患者中的MASLD/MASH进行仔细评估，并且如果可能的话，生长激素替代治疗应持续至成年期。
