Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, department of Pediatric Endocrinology, Amsterdam, the Netherlands.
Amsterdam UMC, University of Amsterdam, department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology & Metabolism, Amsterdam, the Netherlands.
J Clin Endocrinol Metab. 2021 Sep 27;106(10):e4231-e4241. doi: 10.1210/clinem/dgab209.
Central congenital hypothyroidism (CH) requires lifelong medical treatment. The majority of children with central CH have multiple pituitary hormone deficiencies (MPHD), but in some cases central CH is isolated. Most pituitary hormone deficiencies are associated with impaired health-related quality of life (HRQoL). However, studies on HRQoL in central CH are lacking.
To evaluate HRQoL and fatigue in children and young adults with central CH, as well as parent perspectives.
Nationwide cross-sectional study comparing HRQoL between early-detected central CH patients and unaffected siblings with the Pediatric Quality of Life inventory (PedsQL™) and PedsQL Multidimensional Fatigue Scale. Participants ≥ 8 years old filled in self-reports; parents of participants aged 3 to 18 years filled in parent reports. Isolated central CH patients, MPHD patients, and siblings were compared using a linear mixed model and Tukey's post hoc test.
Eighty-eight patients and 52 siblings participated, yielding 98 self-reports and 115 parent reports. Isolated central CH patients (n = 35) and siblings showed similar scores on all subscales, both in the self-reports and parent reports. For MPHD patients (n = 53), self-reported scores were similar to those of siblings. Parent reported total HRQoL and fatigue scores were significantly poorer in MPHD patients compared with siblings (mean differences -10.2 and -9.4 points; P < 0.01), as were scores for physical functioning, social functioning and general fatigue.
Self-reported HRQoL scores in isolated central CH and MPHD patients were similar to siblings. However, parents reported significantly lower HRQoL and fatigue scores for MPHD patients, suggesting a difference in perceived limitations between MPHD patients and their parents.
中枢性先天性甲状腺功能减退症（CH）需要终身治疗。大多数患有中枢性 CH 的儿童存在多种垂体激素缺乏症（MPHD），但在某些情况下，中枢性 CH 是孤立的。大多数垂体激素缺乏症与健康相关生活质量（HRQoL）受损有关。然而，关于中枢性 CH 患者 HRQoL 的研究尚缺乏。
评估中枢性 CH 患儿和青年患者的 HRQoL 和疲劳状况，以及家长的看法。
全国性的横断面研究，使用儿科生活质量量表（PedsQL™）和儿科多维疲劳量表比较早期发现的中枢性 CH 患者与未受影响的同胞的 HRQoL。≥ 8 岁的参与者填写自我报告；3 至 18 岁参与者的父母填写家长报告。使用线性混合模型和 Tukey 事后检验比较孤立性中枢性 CH 患者、MPHD 患者和同胞。
88 名患者和 52 名同胞参与了研究，共获得 98 份自我报告和 115 份家长报告。孤立性中枢性 CH 患者（n=35）和同胞在自我报告和家长报告的所有子量表上的得分相似。对于 MPHD 患者（n=53），自我报告的得分与同胞相似。与同胞相比，MPHD 患者的家长报告的总 HRQoL 和疲劳评分明显较差（平均差异为-10.2 和-9.4 分；P<0.01），生理功能、社会功能和一般疲劳的评分也较差。
孤立性中枢性 CH 和 MPHD 患者的自我报告 HRQoL 评分与同胞相似。然而，家长报告 MPHD 患者的 HRQoL 和疲劳评分明显较低，这表明 MPHD 患者及其家长对其受限程度的看法存在差异。
