Kapil Ambika, Morello Pamella, Rocher Maray, Frontela Odalys, Abdelmoneim Sahar S
Osteopathic Medicine, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Fort Lauderdale, USA.
Internal Medicine, Larkin Community Hospital, Hialeah, USA.
Cureus. 2025 Mar 16;17(3):e80673. doi: 10.7759/cureus.80673. eCollection 2025 Mar.
Thyroid hormone resistance (RTH) is a rare disorder characterized by impaired cellular responsiveness to thyroid hormones, leading to discordant thyroid function tests and varied clinical manifestations. We present the case of a 43-year-old Cuban-American female patient who presented with dizziness, vertigo, repeated falls, and a severe headache following a minor fall. Additional symptoms included nausea, vomiting, photophobia, cold intolerance, generalized body aches, and fatigue. Her medical history was significant for total thyroidectomy for papillary thyroid cancer, multiple sclerosis (MS), pituitary macroadenoma, Cushing's disease, and polycystic ovary syndrome (PCOS). Post-thyroidectomy, she remained on high-dose levothyroxine (400-750 mcg daily). However, laboratory tests showed persistently elevated thyroid-stimulating hormone (TSH) levels, hence raising suspicion for RTH. This case highlights the challenges of diagnosing and managing RTH, a rare endocrine disorder often resulting from mutations in the thyroid hormone receptor-beta (THB) gene. RTH is characterized by inappropriately normal or elevated TSH despite high thyroid hormone levels, reflecting tissue-level resistance. This case underscores the complexities of identifying RTH in the setting of multiple comorbidities and a history of thyroidectomy. It also emphasizes the need for clinician awareness of atypical presentations of RTH, particularly in patients with extensive endocrine and systemic histories.
甲状腺激素抵抗（RTH）是一种罕见的疾病，其特征是细胞对甲状腺激素的反应受损，导致甲状腺功能检查结果不一致和临床表现多样。我们报告一例43岁的古巴裔美国女性患者，她在一次轻微跌倒后出现头晕、眩晕、反复跌倒和严重头痛。其他症状包括恶心、呕吐、畏光、不耐寒、全身酸痛和疲劳。她的病史包括因乳头状甲状腺癌行全甲状腺切除术、多发性硬化症（MS）、垂体大腺瘤、库欣病和多囊卵巢综合征（PCOS）。甲状腺切除术后，她一直服用高剂量左甲状腺素（每日400 - 750微克）。然而，实验室检查显示促甲状腺激素（TSH）水平持续升高，因此怀疑为RTH。本病例突出了诊断和管理RTH的挑战，RTH是一种罕见的内分泌疾病，通常由甲状腺激素受体β（THB）基因突变引起。RTH的特征是尽管甲状腺激素水平高，但TSH却异常正常或升高，反映了组织水平的抵抗。该病例强调了在存在多种合并症和甲状腺切除病史的情况下识别RTH的复杂性。它还强调临床医生需要了解RTH的非典型表现，特别是在有广泛内分泌和全身病史的患者中。
