Effects of short‐course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Abstract

Our findings revealed improved function in several areas of development which had been severely delayed in boys with 49,XXXXY. Continued research is underway to expand our understanding of the relationship of androgen, brain function and behavioural outcome in boys with 49,XXXXY.

Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

“…Intervention therapies used at an early age can benefit individuals with these disorders, 7,[32][33][34] but existing tests such as molecular karyotyping are not suitable for low-cost, high-throughput use. The ability to combine FREE2 methylation and SRY copy number testing removes the technical barrier to screening for sex chromosome aneuploidy and provides the option to perform "FXS only" screening or combined FXS and sex chromosome aneuploidy screening.…”

Testosterone exposure in childhood: discerning pathology from physiology

“…Androgens may have neurocognitive benefits, as seen with Turner, Klinefelter and multiple X syndromes in which hypogonadism precludes normal low-level gonadal androgen production of childhood. Young boys with 47,XXY or 49,XXXXY may have improved neurocognitive function after a course of low-dose T [60,61]. Similarly, oxandrolone improved behavior and learning parameters in girls with Turner syndrome [62][63][64].…”

Sexual differentiation of the brain in man and animals: Of relevance to Klinefelter syndrome?

“…Interestingly, analyses of FOXP2 mRNA and protein in samples of human cortex in Brodmann’s area 44, a language associated brain region, also revealed a sex difference in 4–5-year-old boys and girls [Bowers et al, 2012]. Recent studies of a rare variant of KS (49,XXXXY) revealed a significant positive effect of androgen treatment of infants and children on the speech and language domain, gestural communication, and vocabulary development [Samango-Sprouse et al, 2011, 2012]. A major implication of this work is the importance of early androgen treatment for enhancing cognitive development, particularly related to speech and language.…”