Risk of gonadal neoplasia in patients with

disorders/differences of sex development

JolantaSlowikowska-HilczeraMariaSzarras-
CzapnikbLiseDuranteaucMarionRappdRenataWalczak-
JedrzejowskaaKatarzynaMarchlewskaaElzbietaOszukowskaeAnnaNordenstro
mfon behalf of the dsd-LIFE group
Highlights
•Patients with DSD and the Y chromosome have the highest risk of gonadal germ
cell neoplasia.
•Particularly high risk concerns patients with: complete, partial and
mixed gonadal dysgenesis.
•Patients with CAIS and Klinefelter syndrome have higher risk of somatic
cell neoplasia in gonads.
•Adult patients with gonadal dysgenesis and the Y chromosome should be under
thorough medical control.

Significance
The incidence of various gonadal neoplasia types and risk factors are outlined in
this article along with the etiology of DSD conditions, any potential malignancy
connected to the diagnoses, and the most recent data on stratification for each
DSD diagnosis and relationship with malignancy. They conducted a cross-sectional
multicenter European research with 1040 DSD patients in total who were above
16 years old (dsd-LIFE). The patients' archive medical records were used to
acquire information on medical history. The participants each completed an
online survey on their own. All patients underwent a physical examination, and 53
individuals had semen analysis done. 214 patients had gonad ultrasound. After
the examination they've found that adult patients with GD and the Y chromosome
have the highest risk of developing gonadal tumours and should be maintained
under strict medical supervision and given specialized medical follow-up to avoid
this.