Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.
Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.
Patients and methods: 490 children and adolescents with GD have been referred to the two endocrine clinics forming part of the joint National Gender Identity Development Service since 2009. Chromosome analysis and physical examination are performed routinely to exclude a DSD.
Results: One de novo sex chromosome variation (47,XYY) was identified. The prenatal diagnosis of 47,XXX was confirmed in one other (total sex chromosome aneuploidy rate 1:245). Neither would have been suspected phenotypically nor did the finding have any bearing on the management of the GD. In addition, karyotyping revealed two individuals with balanced familial translocations and one with a small marker chromosome, none of which had any clinical consequences (total autosomal aneuploidy rate 1:163). The finding of these karyotype variations is within known population aneuploidy prevalence rates (1:250 sex chromosomes; 1:150 autosomes).
Conclusions: No additional chromosome variations were identified in children and adolescents with GD over and above the frequency expected within the general population. This differs from the situation in a DSD. Chromosome analysis in children and adolescents with GD may not, therefore, be routinely indicated.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology