Klinefelter’s Syndrome

Noorunnehar Qureshi

A Brief Introduction

• XXY • Nondisjunction resulting in a trisomy of the sex

chromosomes• Usually because of a random error during

formation of egg or sperm• Can also be due to replication error after

conception• Does not always prevent in obvious way• Occurs in ~1 in 650 males

Manifestation and Treatment

• The syndrome usually presents with – Tall stature– Hypogonadism– Fertility problems– Cognitive/language deficits of varying severity– Gynecomastia– Female distribution of fat and body hair– Decreased brain volume– Infertility– Unsuppressed FSH and LH

• Treatment– Androgen therapy

Citations

• Boada, R., Janusz, J., Hutaff-Lee, C., & Tartaglia, N. (2009). The Cognitive Phenotype in Klinefelter Syndrome: A Review of the Literature Including Genetic and Hormonal Factors. Developmental Disabilities Research Reviews,15(4), 284–294. http://doi.org/10.1002/ddrr.83

• Giltay, J., & Maiburg, M. (2010). Klinefelter syndrome: Clinical and molecular aspects. Expert Review of Molecular Diagnostics, 15(4), 765-776. doi:10.1586/erm.10.63.

• Wattendorf, D., & Nye, N. (2005). The Klinefelter Syndrome. American Family Physician, 72(11), 2259-62. Retrieved September 7, 2015, from http://www.ncbi.nlm.nih.gov/pubmed/16342850?dopt=Abstract