Abd El Baky Hend, Cziranka-Crooks Danika, Prasanna Kumar Brinda, Jacobs Meghan, Killion Jeremy, Mastrandrea Lucy D
Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, John R. Oishei Children's Hospital, Buffalo, NY 14203, USA.
JCEM Case Rep. 2024 Jul 30;2(8):luae118. doi: 10.1210/jcemcr/luae118. eCollection 2024 Aug.
Hypothyroidism is a common clinical condition with nonspecific symptoms such as fatigue, cold intolerance, and constipation. Rarely, severe primary hypothyroidism presents with rhabdomyolysis. We present a 12-year-old boy with several months of fatigue, muscle cramping, and elevated creatine kinase (CK) who was found to have severe primary hypothyroidism. Initial laboratory evaluation was significant for CK 2056 U/L (reference, 0-300 U/L; 34.34 µkat/L) and creatinine 1.39 mg/dL (reference, 0.4-1 mg/dL; 122.88 µmol/L). He was admitted for management of rhabdomyolysis with acute kidney injury. Further biochemical testing revealed profound hypothyroidism-thyrotropin 494 mIU/mL (reference, 0.40-6.00 mIU/mL) and free thyroxine (T4) less than 0.4 ng/dL (reference, 0.80-1.80 ng/dL; <5.15 pmol/L). Thyroglobulin and thyroid peroxidase autoantibodies were positive, confirming autoimmune hypothyroidism. Low-dose levothyroxine was initiated. With aggressive rehydration, creatinine and CK levels improved. The patient was discharged home with instructions to escalate thyroid hormone replacement over 8 weeks. While the etiology of CK elevation in severe hypothyroidism is poorly understood, it is hypothesized that T4 deficiency alters mitochondrial oxidative capacity and glycogenolysis precipitating muscle atrophy and breakdown with CK release. This case highlights that clinicians should consider thyroid function testing in patients with symptoms of muscle pain and unexplained elevations in CK.
甲状腺功能减退是一种常见的临床病症,具有疲劳、畏寒和便秘等非特异性症状。严重的原发性甲状腺功能减退很少表现为横纹肌溶解。我们报告一名12岁男孩,他有几个月的疲劳、肌肉痉挛和肌酸激酶(CK)升高,结果发现患有严重的原发性甲状腺功能减退。初始实验室检查显示CK为2056 U/L(参考值,0 - 300 U/L;34.34 μkat/L),肌酐为1.39 mg/dL(参考值,0.4 - 1 mg/dL;122.88 μmol/L)。他因横纹肌溶解合并急性肾损伤入院治疗。进一步的生化检查显示严重甲状腺功能减退——促甲状腺激素为494 mIU/mL(参考值,0.40 - 6.00 mIU/mL),游离甲状腺素(T4)低于0.4 ng/dL(参考值,0.80 - 1.80 ng/dL;<5.15 pmol/L)。甲状腺球蛋白和甲状腺过氧化物酶自身抗体呈阳性,确诊为自身免疫性甲状腺功能减退。开始使用低剂量左甲状腺素。通过积极补液,肌酐和CK水平有所改善。患者出院时被告知在8周内逐步增加甲状腺激素替代治疗剂量。虽然严重甲状腺功能减退时CK升高的病因尚不清楚,但据推测,T4缺乏会改变线粒体氧化能力和糖原分解,导致肌肉萎缩和分解,并释放CK。该病例强调,临床医生应对有肌肉疼痛症状且CK unexplained(原文如此,可能有误,推测应为“不明原因升高”)的患者进行甲状腺功能检查。