Abstract:

Objective White-Sutton syndrome (WHSUS) is a monogenic genetic disorder with significant phenotypic differences. This study aims to further expand the clinical phenotypic spectrum of WHSUS and explore potential treatment methods for improving symptoms. Methods A retrospective analysis was conducted on the clinical data of four WHSUS patients who visited Children's Medical Center from July 2018 to February 2023. Results The age range of the first diagnosis of the 4 patients was 1-9 years old, 2 boys and 2 girls, all of whom had delayed language and motor development. Patient 1, a girl, exhibited a previously unreported clinical phenotype, tethered cord syndrome (TCS), and concurrent insulin resistance. Patient 2, a girl, visited the doctor due to short stature and poor academic performance. She received growth hormone treatment for 3.5 years. At the age of 12 years and 1 month during the follow-up, her height was 152 cm (P₅₀), and her menstruation was normal. Patient 3, a boy, was treated for delayed language development. Patient 4 was a boy with delayed language development and autistic tendency. All four patients had de novo mutations in the POGZ gene and were diagnosed with WHSUS. Conclusions This study detailedly reported the clinical features of 4 patients with WHSUS, expanding the phenotypic spectrum of WHSUS. Meanwhile, it was the first to report the treatment attempt of growth hormone for a child with WHSUS and short stature, providing a new idea for the symptomatic treatment of this kind of disease.

Key words: White-Sutton syndrome, POGZ gene, tethered cord syndrome