What's in a name: Imaging nomenclature in variations of sex development

In patients with variations of sex development (VSD), phenotype may not match with karyotype and/or gonadal tissue. The neutral term "gonad" is often preferred (instead of "ovaries" or "testes") to avoid confusion. This study describes the variability of nomenclature in imaging reports.

This is a retrospective cohort study of patients from 2007 to 2021 with a diagnosis of complete androgen insensitivity syndrome (CAIS), 45X/46XY or 46XX/46XY sex chromosomal mosaicism (SCM), and 46XY gonadal dysgenesis (GD).

69 reports were analyzed, including 18 pelvic ultrasounds or magnetic resonance imaging (MRI) from patients with CAIS, 27 from patients with SCM, and 16 from patients with GD. In cases of CAIS, no imaging reports referred to "gonads." In SCM, one ultrasound and one MRI noted "gonads." In GD, one ultrasound and 3 MRI mentioned "gonads." In 32 cases (46 %), the VSD diagnosis was listed as a reason for obtaining the imaging. Of these, only 4/32 (12 %) reports used "gonads" instead of "ovaries" and/or "testes."

There is wide variability in nomenclature used for gonadal tissue in patients with VSD, which is often inaccurate and confusing. There is a need for establishment of best practice guidelines in radiological reporting for patients with VSD. We recommend usage of the neutral term "gonads" with a known VSD and other conditions which commonly lead to a VSD diagnosis, such as incongruence between gonadal appearance, karyotype, and/or sex assigned at birth, and atypical genitalia.