Cohen A, Kauli R, Pertzelan A, Lavagetto A, Roitmano Y, Romano C, Laron Z
University Department of Pediatrics, G Gaslini Institute, Genoa, Italy.
Acta Paediatr. 1995 May;84(5):550-4. doi: 10.1111/j.1651-2227.1995.tb13693.x.
Final height of 75 adults with Turner's syndrome (45 Israeli, 30 Italian), never treated with GH, was examined to see if a relationship with karyotype patterns and parental height existed. Patients were divided into five groups according to their chromosome pattern, as follows: group A = 45, X karyotype (34 patients); group B = mosaicism (11 with karyotype 45,X/46,XX and 7 with karyotype 45,X/46,XY); group C = deletion of all or part of Xp (19 patients); subgroup C1 = 6 with complete deletion of Xp; subgroup C2 = 9 with mosaicism 45,X/46,X,i(Xq); subgroup C3 = 4 with 45,X/46,X,ring(X); group D = deletion of Xq (4 patients); pure gonadal dysgenesis (PGD) group = 9 patients with pure 46,XX gonadal dysgenesis. No statistical difference was noted between the mean height of the two national populations studied (Italian 142.2 +/- 5.7 and Israeli 143.0 +/- 7.2 cm). The mean heights of group D (148.9 cm; range 147-166.2) and the PGD group (156.0 cm; 141-171.5) were found to be significantly higher than those observed in groups A, B and C (p < 0.03, p < 0.02 and p < 0.02, respectively), even though gonadal distinction existed in all five groups. Subgroup C1, where a deletion of the entire Xp segment [46,X,i(Xq)] was present, was found to be the shortest group (median height 134.5; range 131.9-138 cm).(ABSTRACT TRUNCATED AT 250 WORDS)
对75名从未接受过生长激素治疗的特纳综合征成年患者（45名以色列患者，30名意大利患者）的最终身高进行了检查，以确定其与核型模式和父母身高之间是否存在关联。根据染色体模式，患者被分为五组，具体如下：A组=45,X核型（34例患者）；B组=嵌合体（11例核型为45,X/46,XX，7例核型为45,X/46,XY）；C组=Xp全部或部分缺失（19例患者）；C1亚组=6例Xp完全缺失；C2亚组=9例嵌合体45,X/46,X,i(Xq)；C3亚组=4例45,X/46,X,ring(X)；D组=Xq缺失（4例患者）；单纯性腺发育不全（PGD）组=9例单纯46,XX性腺发育不全患者。在所研究的两个国家人群（意大利人平均身高142.2±5.7厘米，以色列人平均身高143.0±7.2厘米）的平均身高之间未发现统计学差异。发现D组（平均身高148.9厘米；范围147 - 166.2厘米）和PGD组（平均身高156.0厘米；141 - 171.5厘米）的平均身高显著高于A、B和C组（分别为p<0.03、p<0.02和p<0.02），尽管所有五组都存在性腺差异。发现存在整个Xp片段缺失[46,X,i(Xq)]的C1亚组是最矮的组（中位身高134.5厘米；范围131.9 - 138厘米）。（摘要截选至250字）
