Final height of girls with Turner's syndrome: correlation with karyotype and parental height

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Abstract
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 CI = 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 p < 0.02 and p <0.02, respectively), even though gonadal distinction existed in all five groups. Subgroup CI, 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). No fixed pattern of correlation between final height and parental height was found within any of the groups studied but if we consider the mean final height of all Turner patients studied, without division into groups, it correlates well, but only with mothers’height and not with fathers’height. These data provide further confirmation that short stature in Turner's syndrome is multifactorial and depends on the deletion of the distal portion of the short arm of chromosome X, on the lack of sex hormone secretion and, in part, on parental height.