Jinan University, Guangzhou, 510632, China.
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, National Children's Medical Center for South Central Region, Guangzhou Medical University, 9 Jinsui Road Tianhe District, Guangzhou, 510623, China.
BMC Pediatr. 2022 Apr 29;22(1):234. doi: 10.1186/s12887-022-03275-5.
To investigate hypothalamic-pituitary-thyroid function in children of different ages, nutritional phases, and genotypes that were diagnosed with Prader-Willi syndrome (PWS), as well as the effects of recombinant human growth hormone (rhGH) treatment on thyroid hormones in PWS patients.
One hundred and thirty PWS patients (87 boys and 43 girls) aged from newborn to 15 years (y) (median 1.25 y, mean, SD: 2.95 ± 3.45 y), were surveyed in this study. Serum thyroid hormone levels were examined at least once per3-6 months during the 2 years follow-up study. Central hypothyroidism (C-HT) was identified as low/normal thyroid-stimulating hormone (TSH) and low free thyroxine 4 (FT4).
All study participants had normal neonatal TSH screening test results. The prevalence of C-HT is 36.2% (47/130). No C-HT cases were diagnosed in PWS either below 1 month (m) or above 12 y. The prevalence of C-TH would be increased with age before 3 y until reaching the peak, followed by a gradual decline over the years. The prevalence of C-HT varies significantly at different ages (Pearson's χ2 = 19.915; p < 0.01). However, there is no correlation between the C-HT prevalence and nutritional phases (Pearson's χ2 = 4.992; p = 0.288), genotypes (Pearson's χ2 = 0.292; p = 0.864), or rhGH therapy (Pearson's χ2 = 1.799; p = 0.180).
This study suggests the prevalence of C-TH was increased with the age before 3 y, and reached the peak in the 1 to 3 y group, then gradually declined over the years. There is no correlation between C-HT prevalence and nutritional phases, genotypes, or rhGH treatment.
为了研究不同年龄、营养阶段和基因型的 Prader-Willi 综合征（PWS）患儿的下丘脑-垂体-甲状腺功能，以及重组人生长激素（rhGH）治疗对 PWS 患者甲状腺激素的影响。
本研究纳入了 130 名 PWS 患儿（87 名男童，43 名女童），年龄从新生儿到 15 岁（中位数 1.25 岁，均值±标准差：2.95±3.45 岁）。在 2 年的随访研究中，至少每 3-6 个月检查一次血清甲状腺激素水平。中枢性甲状腺功能减退症（C-HT）定义为低/正常促甲状腺激素（TSH）和游离甲状腺素 4（FT4）降低。
所有研究对象的新生儿 TSH 筛查试验结果均正常。C-HT 的患病率为 36.2%（47/130）。1 个月内或 12 岁以上的 PWS 患儿均未诊断出 C-HT 病例。C-TH 的患病率在 3 岁前会随着年龄的增长而增加，直到达到峰值，随后逐年下降。C-HT 的患病率在不同年龄段差异显著（Pearson χ2=19.915;p<0.01）。然而，C-HT 的患病率与营养阶段（Pearson χ2=4.992;p=0.288）、基因型（Pearson χ2=0.292;p=0.864）或 rhGH 治疗（Pearson χ2=1.799;p=0.180）无关。
本研究表明，C-TH 的患病率在 3 岁前随年龄增长而增加，在 1 至 3 岁组达到峰值，随后逐年下降。C-HT 的患病率与营养阶段、基因型或 rhGH 治疗无关。
