Abstract
Purpose: The presence of a disorder of sexual development (DSD) acts as a diagnostic specifier for gender dysphoria (GD) under DSM-5, while the International Classification of Diseases (ICD)-10 specifically states that its equivalent diagnosis, gender identity disorder (GID), must not be the result of a chromosomal abnormality. For these reasons, routine karyotyping has been previously advocated in the clinical work-up of children and adolescents with suspected GD or GID. However, the utility of such testing remains unclear.Methods: The results of routine molecular karyotyping were analyzed in 128 patients attending our Australian statewide pediatric gender service from 2013 to 2016. Karyotyping was performed using an Illumina BeadChip platform and provided information on both sex chromosome composition and copy number variation (CNV).Results: No sex chromosome abnormalities directly suggestive of a DSD were discovered. The rate of CNVs among our patient cohort was 8.6% (11/128), similar to that previously reported for the general population. Unexpectedly, three trans male patients shared the same CNV, involving an almost identical 400 kbp deletion on chromosome 15q11.2. The frequency of this deletion within birth-assigned females in our cohort (3/69; 4.3%) was significantly higher than that within local control populations (0.3%; Fisher's exact test p-value=0.002), suggesting a possible association between 15q11.2 deletions and trans male identity.Conclusion: Routine molecular karyotyping failed to detect any occult DSD and indicated that the rate of CNVs was similar to that of the general population. Given these findings, we suggest that molecular karyotyping has minimal clinical utility in the routine management of children and adolescents with GD.
Highlights
Gender dysphoria (GD) describes when an individual experiences incongruence between their sex assigned at birth and their inner gender identity.[1]
Sample characteristics One hundred and twenty-eight molecular karyotypes were extracted from 69 birth-assigned females (BAFs) and 59 birth-assigned males (BAMs)
We present for the first time molecular karyotyping results for a large cohort of children and adolescents presenting with suspected GD
Summary
Gender dysphoria (GD) describes when an individual experiences incongruence between their sex assigned at birth and their inner gender identity.[1]. GD and DSDs are distinct entities, they can co-occur,[4] especially in DSDs where genetically XY individuals have defects in testosterone synthesis[5] and genetically XX individuals have excessive androgens due to congenital adrenal hyperplasia.[6]. The presence of a DSD has been an exclusion criterion for the diagnosis of GD in previous versions of the DSM, and is a diagnostic specifier for GD in the current version of DSM-5.1 some have advocated for the removal of this DSD specifier, its inclusion reflects that individuals with GD and a DSD are clinically distinct from those with GD alone and that treatment criteria differ.[7,8].
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