Department of Gastroenterology, Nutrition and Endocrinology, Osaka Women's and Children's Hospital, Izumi, Japan.
Department of Pediatrics, Kashibaseiki Hospital, Kashiba, Japan.
Clin Endocrinol (Oxf). 2021 Mar;94(3):384-391. doi: 10.1111/cen.14323. Epub 2020 Dec 3.
Abnormalities in the hypothalamic-pituitary-thyroid (HPT) axis have been implicated in Prader-Willi syndrome (PWS); however, limited information is currently available on age-dependent alterations in the HPT axis. We herein investigated age-dependent differences in thyroid hormone levels in PWS children.
DESIGN/PATIENTS/MEASUREMENTS: Free T4 (FT4), free T3 (FT3) and thyroid-stimulating hormone (TSH) concentrations were retrospectively compared between genetically confirmed PWS children (N = 43, median age: 11.2 months) and controls (N = 85, median age: 14.5 months) matched for age, sex, body weight-SD score (SDS), height-SDS, body mass index-SDS and serum albumin level, a marker of the nutritional status. Subjects were subdivided into two groups based on their age: an infant group aged between 1 and 11 months (PWS: N = 22, controls: N = 30) and a toddler group aged between 12 and 47 months (PWS: N = 21, controls: N = 55). None of the subjects had ever been treated with growth hormone or levothyroxine.
After adjustments for confounding variables, in the infant group, FT4 levels (pmol/L) were significantly lower in PWS (11.24 in PWS vs 14.32 in controls, P = .0002), whereas no significant differences were observed in FT3 or TSH levels. In the toddler group, no significant differences were noted in FT4 (12.23 in PWS vs 15.31 in controls, P = .10), FT3 or TSH levels. The FT3/FT4 ratio was significantly increased in PWS in both groups. FT4 levels were positively correlated with age in PWS.
Infants with PWS had lower FT4 levels, but FT3 levels were normal, indicating that the levothyroxine replacement therapy may not need to be routinely performed.
下丘脑-垂体-甲状腺（HPT）轴的异常与普拉德-威利综合征（PWS）有关；然而，目前关于 HPT 轴随年龄变化的信息有限。本研究旨在探讨 PWS 儿童甲状腺激素水平的年龄依赖性差异。
设计/患者/测量：回顾性比较了经基因确认的 PWS 儿童（N=43，中位年龄：11.2 个月）和年龄匹配的对照组（N=85，中位年龄：14.5 个月）的游离 T4（FT4）、游离 T3（FT3）和促甲状腺激素（TSH）浓度，对照组在年龄、性别、体重-SD 评分（SDS）、身高-SDS、体重指数-SDS 和血清白蛋白水平（营养状况的标志物）方面与 PWS 儿童相匹配。根据年龄将受试者分为两组：1 至 11 个月龄的婴儿组（PWS：N=22，对照组：N=30）和 12 至 47 个月龄的幼儿组（PWS：N=21，对照组：N=55）。所有受试者均未接受过生长激素或左甲状腺素治疗。
调整混杂变量后，在婴儿组中，PWS 的 FT4 水平（pmol/L）明显低于对照组（PWS 为 11.24，对照组为 14.32，P=0.0002），而 FT3 或 TSH 水平无显著差异。在幼儿组中，PWS 的 FT4（PWS 为 12.23，对照组为 15.31，P=0.10）、FT3 或 TSH 水平无显著差异。两组中 PWS 的 FT3/FT4 比值均显著升高。PWS 患者的 FT4 水平与年龄呈正相关。
患有 PWS 的婴儿 FT4 水平较低，但 FT3 水平正常，表明左甲状腺素替代治疗可能不需要常规进行。
