Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT).

Brooks, Michaela R; Gropman, Andrea L; Hamzik, Mary P; Khaksari, Kosar; Powell, Sherida; Sadeghin, Teresa; Taylor, Alexa M; Samango-Sprouse, Carole · Genet Med · 2023

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Abstract

47,XXY is often associated with reduced expressive language and literacy skills. This retrospective cross-sectional study investigated risk factors (hormone replacement deficiency, pre-or postnatal diagnosis, and history of family learning disabilities [FLDs]) associated with reading skills in 152 males. We analyzed Woodcock Reading Mastery Test scores among 7 prenatally diagnosed male hormone replacement therapy (HRT) groups using analysis of variance along with analysis of variance and 2 postnatally diagnosed male HRT groups (No-T and T) using t tests. Treated prenatally diagnosed males with FLDs were compared with an identically treated prenatal HRT group with no history of FLDs using a t test. In prenatally diagnosed males, significant treatment differences were observed on several reading scales (eg, total reading: χ<sup>2</sup> = 17.96, P = .006), in which the highest modality HRT group (mean [M] =119.87) outperformed the untreated group (M = 99.88). In the postnatal analysis, we observed a significant effect of treatment on basic skills (P = .01). Despite equal HRT status, males with FLDs (M = 105.79) exhibited reduced total reading skills compared with those in the no FLD group (P = 0.0006). Our findings in this pilot study reveal that the most optimal reading trajectory is associated with a prenatal diagnosis, absence of FLDs, and the highest modality HRT.

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