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

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

doi:10.1016/j.gim.2023.100864

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

Genet Med. 2023 Aug;25(8):100864. doi: 10.1016/j.gim.2023.100864. Epub 2023 Apr 28.

Authors

Michaela R Brooks¹, Andrea L Gropman², Mary P Hamzik¹, Kosar Khaksari³, Sherida Powell⁴, Teresa Sadeghin¹, Alexa M Taylor¹, Carole Samango-Sprouse⁵

Affiliations

¹ Department of Research, The Focus Foundation, Crofton, MD.
² Division of Neurogenetics and Developmental Pediatrics, Department of Neurology, Children's National Medical Center, Washington, DC; Department of Neurology, George Washington University, Washington, DC.
³ Department of Research, The Focus Foundation, Crofton, MD; Division of Neurogenetics and Developmental Pediatrics, Department of Neurology, Children's National Medical Center, Washington, DC.
⁴ Department of Economics, George Washington University, Washington, DC.
⁵ Department of Research, The Focus Foundation, Crofton, MD; Department of Pediatrics, George Washington University, Washington, DC; Department of Human and Molecular Genetics, Florida International University, Miami, FL. Electronic address: cssprouse@email.gwu.edu.

PMID: 37120725
DOI: 10.1016/j.gim.2023.100864

Abstract

Purpose: 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.

Methods: 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.

Results: In prenatally diagnosed males, significant treatment differences were observed on several reading scales (eg, total reading: χ² = 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).

Conclusion: 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.

Keywords: 47,XXY; Early hormonal treatment; Hormone replacement therapy; Klinefelter syndrome; Reading.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cross-Sectional Studies
Female
Hormone Replacement Therapy*
Humans
Male
Pilot Projects
Pregnancy
Reading*
Retrospective Studies
Risk Factors