The most optimal reading trajectory in males with 47,XXY is associated with a prenatal diagnosis, absence of family learning disabilities, and the highest modality hormone replacement therapy.
Key Findings
Results
Significant treatment differences were observed across multiple reading scales in prenatally diagnosed males with 47,XXY.
Seven prenatal HRT groups were compared using analysis of variance on Woodcock Reading Mastery Test scores.
Significant treatment differences were found on total reading (χ2 = 17.96, P = .006).
The highest modality HRT group had a mean total reading score of 119.87 compared to the untreated group mean of 99.88.
Study included 152 males total in a retrospective cross-sectional design.
Results
Postnatal diagnosis with testosterone treatment was associated with significantly better basic reading skills compared to untreated postnatally diagnosed males.
Two postnatal HRT groups (No-T and T) were compared using t tests.
A significant effect of treatment on basic skills was observed (P = .01).
Postnatally diagnosed males were analyzed separately from the seven prenatally diagnosed HRT groups.
Results
Family learning disabilities (FLDs) were associated with significantly reduced total reading skills in males with 47,XXY, independent of HRT status.
Prenatally diagnosed males with FLDs were compared to an identically treated prenatal HRT group with no history of FLDs using a t test.
Despite equal HRT status, males with FLDs had a mean total reading score of 105.79 compared to higher scores in the no-FLD group.
The difference between FLD and no-FLD groups was statistically significant (P = 0.0006).
FLD history was identified as one of the key risk factors investigated alongside hormone replacement deficiency and pre- or postnatal diagnosis.
Background
Three risk factors were identified as influencing reading skills in males with 47,XXY: hormone replacement deficiency, timing of diagnosis (pre- or postnatal), and history of family learning disabilities.
The study investigated hormone replacement deficiency, pre- or postnatal diagnosis, and history of FLDs as risk factors.
This was a retrospective cross-sectional study of 152 males with 47,XXY.
Reading skills were assessed using the Woodcock Reading Mastery Test.
The study is described as a pilot study.
Background
47,XXY is associated with reduced expressive language and literacy skills, forming the rationale for investigating HRT and other risk factors on reading outcomes.
The paper states that 47,XXY 'is often associated with reduced expressive language and literacy skills.'
The study examined whether HRT modality could modify reading outcomes in this population.
Seven distinct prenatal HRT groups were used to examine dose/modality effects on reading.
Brooks M, Gropman A, Hamzik M, Khaksari K, Powell S, Sadeghin T, et al.. (2023). Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT).. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2023.100864