Thyroid function in children with Prader-Willi syndrome in Southern China: a single-center retrospective case series

BMC Pediatr. 2022 Apr 29;22(1):234. doi: 10.1186/s12887-022-03275-5.

Abstract

Background: 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.

Methods: 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).

Results: 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).

Conclusions: 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.

Keywords: Hypothyroidism; Prader-Willi syndrome; Recombinant human growth hormone; Thyroid function.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Human Growth Hormone* / therapeutic use
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Prader-Willi Syndrome* / diagnosis
  • Prader-Willi Syndrome* / drug therapy
  • Retrospective Studies
  • Thyroid Gland
  • Thyrotropin

Substances

  • Human Growth Hormone
  • Thyrotropin