The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood

Purpose 47,XXY is associated with variable neurodevelopmental outcomes including deficits in expressive and receptive language development. Early hormonal treatment (EHT) has been associated with mitigating some deficiencies in boys with 47,XXY. This study investigates these language capabilities of 47,XXY boys in the first five years of life and the associated effects of EHT on these capabilities. Methods One hundred and seventy-five boys with 47,XXY between the ages of 0 and 5 years, 11 months completed neurodevelopmental assessments specific to age examining their expressive and receptive language capabilities. Subjects were grouped by treatment (EHT and No-T) and differences were analyzed. Results In the age groups of under 12 months, 24–35 months, 36–47 months, and 60–71 months, the EHT group scored significantly higher on expressive language assessments than the No-T group ( p = 0.09, p = 0.0002, p = 0.009, and p = 0.02, respectively). In the age groups of under 12 months and 24–35 months, the EHT group scored significantly better on the auditory comprehension domain of the PLS-4/5 ( p = 0.02 and p = 0.05, respectively) than the No-T group. Conclusion Study data suggest EHT may be essential in optimizing receptive and expressive language development in 47,XXY boys during early childhood, which is critical in fostering reading skills and later academic success.