XYY syndrome: a 13-year-old boy with tall stature
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When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.
Abstract
When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.
참고문헌 (14)
- Sabin MA, "Genetics of obesity and overgrowth syndromes", Best Pract Res Clin Endocrinol Metab, 25, pp.207~220 (2011)
- Jacobs PA, "A cytogenetic survey of 11,680 newborn infants", Ann Hum Genet, 37, pp.359~376 (1974)
- Ratcliffe S., "Long-term outcome in children of sex chromosome abnormalities", Arch Dis Child, 80, pp.192~195 (1999)
- "Children and young adults with sex chromosome aneuploidy:follow-up, clinical and molecular studies. Minaki, Ontario, Canada, June 7-10, 1989", Birth Defects Orig Artic Ser, 26, pp.1~304 (1990)
- Stochholm K, "Diagnosis and mortality in 47,XYY persons: a registry study", Orphanet J Rare Dis, 5, pp.15~ (2010)
- Margari L, "Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature", Eur J Pediatr, 173, pp.277~283 (2014)
- Wong EC, "Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male", Hum Reprod, 23, pp.374~378 (2008)
- Bardsley MZ, "47,XYY syndrome: clinical phenotype and timing of ascertainment", J Pediatr, 163, pp.1085~1094 (2013)
- Ottesen AM, "Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy", Am J Med Genet A, 152A, pp.1206~1212 (2010)
- Kasparis C, "Childhood acne in a boy with XYY syndrome", BMJ Case Rep (2014)[DOI]
- Rives N, "From spermatocytes to spermatozoa in an infertile XYY male", Int J Androl, 28, pp.304~310 (2005)
- Milazzo JP, "Chromosome constitution and apoptosis of immature germ cells present in sperm of two 47,XYY infertile males", Hum Reprod, 21, pp.1749~1758 (2006)
- Lim AS, "Analysis of the sex chromosome constitution of sperm in men with a 47, XYY mosaic karyotype by fluorescence in situ hybridization", Fertil Steril, 72, pp.121~123 (1999)
- Kim IW, "47,XYY Syndrome and Male Infertility", Rev Urol, 15, pp.188~196 (2013)