Kaulfers Anne Marie D, Lim Whei Ying, Bhowmick Samar K
Department of Pediatric Endocrinology, University of South Alabama, Mobile, Alabama.
AACE Clin Case Rep. 2020 Dec 24;7(3):192-194. doi: 10.1016/j.aace.2020.12.012. eCollection 2021 May-Jun.
To describe new and unusual endocrinopathies in children with de novo 18q deletion (18q-) syndrome.
We describe 2 patients who have atypical thyroid conditions and 1 who also developed symptomatic hypocalcemia.
The first patient developed hyperthyroidism at the age of 3 years, with a free thyroxine level of 3.9 (range, 0.8-1.8) ng/dL. Thyroid peroxidase antibodies were 262 (range, 0-32) IU/mL, and thyroid-stimulating immunoglobulin antibodies were 384% (range, 0-139%). On low-dose methimazole treatment, she developed hypothyroidism. Thyroid-stimulating hormone (TSH) level was 163 (range, 0.4-4.5) mIU/mL. Moreover, she later developed growth hormone deficiency. The second patient developed hypothyroidism at the age of 4 years, with a TSH level of 46 mIU/mL. However, TSH remained elevated at levels of 10 to 24 mIU/mL for 3 years, despite appropriate treatment, suggesting TSH resistance. She then developed hypocalcemic seizures and was diagnosed with pseudohypoparathyroidism. Her total calcium level was 6.6 (range, 8.5-10.5) mg/dL and parathyroid hormone level was 432 (range, 15-65) pg/dL.
The first patient had a mixed picture of autoimmune hypothyroidism and hyperthyroidism, requiring a combination of methimazole and levothyroxine to achieve a euthyroid state. For the second patient, the mild TSH resistance was possibly the early suggestion of a parathyroid hormone resistant state. Although growth hormone deficiency and hypothyroidism are common in patients with 18q- syndrome, the occurrence of hyperthyroidism due to Graves' disease with the coexistence of Hashimoto's hypothyroidism is rare. Pseudohypoparathyroidism has not yet been reported in patients with 18q- syndrome.
描述新发18号染色体长臂缺失（18q-）综合征患儿的新型及罕见内分泌疾病。
我们描述了2例患有非典型甲状腺疾病的患者和1例还出现有症状性低钙血症的患者。
首例患者3岁时发生甲状腺功能亢进，游离甲状腺素水平为3.9（范围0.8 - 1.8）ng/dL。甲状腺过氧化物酶抗体为262（范围0 - 32）IU/mL，促甲状腺素受体抗体为384%（范围0 - 139%）。接受低剂量甲巯咪唑治疗后，她出现了甲状腺功能减退。促甲状腺激素（TSH）水平为163（范围0.4 - 4.5）mIU/mL。此外，她后来出现了生长激素缺乏。第二例患者4岁时发生甲状腺功能减退，TSH水平为46 mIU/mL。然而，尽管接受了适当治疗，但TSH在10至24 mIU/mL水平持续升高达3年，提示存在TSH抵抗。随后她出现了低钙性惊厥，并被诊断为假性甲状旁腺功能减退。她的总钙水平为6.6（范围8.5 - 10.5）mg/dL，甲状旁腺激素水平为432（范围15 - 65）pg/dL。
首例患者呈现自身免疫性甲状腺功能减退和甲状腺功能亢进的混合表现，需要联合使用甲巯咪唑和左甲状腺素以达到甲状腺功能正常状态。对于第二例患者，轻度TSH抵抗可能是甲状旁腺激素抵抗状态的早期表现。虽然生长激素缺乏和甲状腺功能减退在18q-综合征患者中很常见，但由格雷夫斯病引起的甲状腺功能亢进与桥本甲状腺功能减退并存的情况很少见。18q-综合征患者中尚未有假性甲状旁腺功能减退的报道。
