Klinefelter Syndrome (Gynecomastia-Aspermatogenesis Syndrome; XXY Syndrome; XXXY Syndrome; XXYY Syndrome; Reifenstein-Albright Syndrome) 858e42i 858e42i 858e42i 858e42i 6
General: Occurrence in 1% of retarded males; phenotypically males with positive female sex chromatin; karyotype shows 47 chromosomes, 44 autosomes, and 3 sex chromosomes with the complement XXY.
Ocular: Anophthalmos; coloboma; corneal opacities.
Clinical: Testicular hypoplasia; sterility; gynecomastia; eunuchoid physique; mental retardation; association with progressive systemic sclerosis and systemic lupus erythematosus.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Klinefelter HF Jr. Syndrome characterized by gynecomastia, aspermatogenesis without aleydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol 1942; 2:615.
Kobayashi S, et al. Klinefelter's syndrome associated with progressive systemic sclerosis: report of a case and review of the literature. Clin Rheumatol 1991; 10:84-86.
Mandoki MW, et al. A review of Klinefelter's syndrome in children and adolescents. J Am Acad Child Adolesc Psychiatry 1991; 30:167-l72.
Welter DA, et al. Klinefelter's syndrome with anophthalmos. Am J Ophthalmol 1974; 77:895.
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