Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism

Context: Gonadectomy is avoided whenever possible in boys with 45,X/46,XY. However, no clinical markers are currently available to guide clinicians in predicting gonadal tumor risk or hormone production. Objective: The objective of the study was to test the hypothesis that gonadal histology and risk for development of a malignant germ cell tumor are reflected by the clinical presentation of a 45,X/46,XY individual. Design: The design of the study was the correlation of clinical data [external masculinization score (EMS), pubertal outcome] with pathology data (gonadal phenotype, tumor risk). Setting: This was a multicenter study involving two multidisciplinary disorder of sex development teams. Patients: Patients included genetically proven 45,X/46,XY (and variants) cases, of whom at least one gonadal biopsy or gonadectomy specimen was available, together with clinical details. Interventions: Patients (n = 48) were divided into three groups, based on the EMS. Gonadal histology and tumor risk were assessed ...