Chromosomal variations in children and adolescents with gender dysphoria: is routine karyotyping indicated?

Claire Goedhardt; Caroline Brain; Russell Viner; Gary Butler; Sabah Alvi; Talat Mushtaq; Jenny Walker; Team  The

doi:10.1530/endoabs.39.EP70

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Endocrine Abstracts (2015) 39 EP70 | DOI: 10.1530/endoabs.39.EP70

BSPED2015 e-Posters Gonadal, DSD and reproduction (8 abstracts)

Chromosomal variations in children and adolescents with gender dysphoria: is routine karyotyping indicated?

Claire Goedhardt ¹ , Caroline Brain ¹ , Russell Viner ¹ , Gary Butler ¹ , Sabah Alvi ² , Talat Mushtaq ² , Jenny Walker ² & The Team ³

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¹UCLH, London, UK; ²Leeds Teaching Hospitals, Leeds, UK; ³National Gender Identity Development Service, London and Leeds, UK.

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: Five hundred and twenty children and adolescents with GD have been referred at the time of reporting to the two endocrine clinics in London and Leeds 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 denovo sex chromosome variation (47,XYY) was identified. The prenatal diagnosis of 47,XXX was confirmed in one other (total sex chromosome aneuploidy rate 1:260). 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 1:173). The finding of these karyotype variations is within known population aneuploidy prevalence rates.

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.