La sfida diagnostica nei mosaicismi della sindrome di Turner

The clinical case describes the case of a paediatric patient, initially evaluated for short stature and selective eating habits, who was diagnosed with mosaic Turner syndrome (45,X/46,XX) only during her adolescence. Despite growth remaining at the lower percentiles and the occurrence of spontaneous puberty, the persistent discrepancy from the genetic target prompted cytogenetic testing. The case illustrates the diagnostic challenges associated with Turner syndrome mosaicism, which often presents with variable phenotypes lacking the classic features of pure monosomy. It emphasises the necessity of rigorous auxological monitoring to ensure timely therapeutic intervention and fertility preservation.