Comparative cephalometric analysis in patients with X-chromosome aneuploidy

Craniofacial morphology in Turner syndrome patientstreated with growth hormone

“…In contrast to the findings from previous studies, which found flattened cranial base angle and shorter posterior cranial base length in TS patients, 2,3,[5][6][7][8]30 no significant differences were found between groups, excluding larger anterior cranial base in study group. Posterior to anterior cranial base ratio proved that in TS patients treated with GH, cranial base was normally developed.…”

“…These results are in accordance with previous studies that have also found retrognathic jaws [24][25][26] and increase in mandibular ramus [24][25][26] and corpus lengths 25,26 in TS girls treated with GH. Bimaxillar retrognathism, also present in TS girls 2,3,5-7 and adult patients 4,8 that were not treated with GH, used to be explained by flattened cranial base 3 and reduced lengths of maxilla and mandible. 2,8 In TS patients treated with GH both jaws had average length, still their position was not ortognathic.…”

“…Bimaxillar retrognathism, also present in TS girls 2,3,5-7 and adult patients 4,8 that were not treated with GH, used to be explained by flattened cranial base 3 and reduced lengths of maxilla and mandible. 2,8 In TS patients treated with GH both jaws had average length, still their position was not ortognathic. On the other hand, the lack of X chromosome was proved to cause retrognathism 8,9 which is present even prenatally in TS patients.…”

“…2,8 In TS patients treated with GH both jaws had average length, still their position was not ortognathic. On the other hand, the lack of X chromosome was proved to cause retrognathism 8,9 which is present even prenatally in TS patients. 30 The results of this study suggest that retrognathic position of maxilla and mandible in TS patients, caused mostly by X chromosome deficiency, cannot be corrected by GH treatment.…”

“…The absence of X chromosome, which causes this syndrome, affects almost all structures of the craniofacial complex in terms of reducing their growth and altering growth direction. 8,9 Additionally, haploinsufficiency of SHOX (short stature homeobox) gene, which is located in pseudoautosomal region 1 of X chromosome, influences skeletal and craniofacial growth and development. 10 It is assumed that TS girls have short stature as a result of growth hormone or insulin-like growth factors resistance, even though they do not have classic growth hormone deficiency.…”