Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience

摘要

Background: Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS. Methods: This was a retrospective evaluation of the clinical and laboratory records of patients with TS. Results: Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmor-phic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases. Conclusions: Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.