The craniofacial complex in karyotype 46,XY females

Abstract

The craniofacial cephalometric dimensions, angles and dimensional ratios of five Finnish individuals with complete testicular feminization (CTF) were compared with their first-degree relatives and population female and male controls. The linear and angular measurements were made from standardized lateral cephalograms of patients and normal population controls from the 'Kvantti Study' series. The women with CTF tended to have cranial base and maxillary complex dimensions between those of the normal control females and males. Their mandibular corpus was found to be longer than in normal control females, while their ramus was shorter compared with that of normal males. They also showed a smaller sagittal length ratio of the maxilla to the mandible, a smaller ANB angle and a more acute gonial angle than in both normal control females and males. Comparison of the women CTF with their first-degree female relatives showed basically the same trends as when comparing them with normal female controls. As the phenotype in these females with CTF is due to insensitivity to, or lack of androgens, it is suggested that the presence of the Y chromosome in these females leads to craniofacial dimensions between those of normal females and males which influences the growth of the mandibular corpus. This follows the same general metric pattern that is observed in many of their adult head and body dimensions as well as in their dental arches.