Jo Won Ha, Jung Mo Kyung, Kim Ki Eun, Chae Hyun Wook, Kim Duk Hee, Kwon Ah Reum, Kim Ho-Seong
Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Department of Pediatrics, Sowha Children's Hospital, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2015 Sep;20(3):170-3. doi: 10.6065/apem.2015.20.3.170. Epub 2015 Sep 30.
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.
在评估身材高大的潜在原因时,区分病理性身材高大和家族性身材高大很重要。导致成人身材高大的各种病理状况包括生长激素分泌过多、马方综合征、雄激素或雌激素缺乏、睾丸女性化以及性染色体异常,如克氏综合征和XYY综合征。患有47,XYY综合征的男性可表现出多种表型。一名13岁男孩因身材高大到医院就诊。除身材高大外,该男孩无其他身体异常。所有生化和影像学检查均在正常范围内。在这项染色体检查中,他被诊断为XYY综合征。在评估身材高大的男性时,应排除XYY综合征。