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

Authors

Michaela R. Brooks, Department of Research, The Focus Foundation, Crofton, MD.
Andrea L. Gropman, Division of Neurogenetics and Developmental Pediatrics, Department of Neurology, Children's National Medical Center, Washington, DC; Department of Neurology, George Washington University, Washington, DC.
Mary P. Hamzik, Department of Research, The Focus Foundation, Crofton, MD.
Kosar Khaksari, Department of Research, The Focus Foundation, Crofton, MD; Division of Neurogenetics and Developmental Pediatrics, Department of Neurology, Children's National Medical Center, Washington, DC.
Sherida Powell, Department of Economics, George Washington University, Washington, DC.
Teresa Sadeghin, Department of Research, The Focus Foundation, Crofton, MD.
Alexa M. Taylor, Department of Research, The Focus Foundation, Crofton, MD.
Carole Samango-Sprouse, 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.

Document Type

Journal Article

Publication Date

8-1-2023

Journal

Genetics in medicine : official journal of the American College of Medical Genetics

Volume

25

Issue

8

DOI

10.1016/j.gim.2023.100864

Keywords

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

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: χ = 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.

APA Citation

Brooks, Michaela R.; Gropman, Andrea L.; Hamzik, Mary P.; Khaksari, Kosar; Powell, Sherida; Sadeghin, Teresa; Taylor, Alexa M.; and Samango-Sprouse, Carole, "Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT)" (2023). GW Authored Works. Paper 3315.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/3315

Department

Neurology