10.6084/m9.figshare.11346836.v1 Andrade J.G.R. Andrade J.G.R. Fabbri-Scallet H. Fabbri-Scallet H. dos Santos A.P. dos Santos A.P. Cools M. Cools M. Werner R. Werner R. Hiort O. Hiort O. de Mello M.P. de Mello M.P. Guerra-Júnior G. Guerra-Júnior G. Maciel-Guerra A.T. Maciel-Guerra A.T. Supplementary Material for: Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis Karger Publishers 2019 Cytogenetics Disorders of sex development Gonadal histology Long-term follow-up Mixed gonadal dysgenesis NR5A1 gene Partial gonadal dysgenesis Testicular dysgenesis 2019-12-10 10:18:05 Dataset https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Clinical_Findings_and_Follow-Up_of_46_XY_and_45_X_46_XY_Testicular_Dysgenesis/11346836 <p>Historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used to describe incomplete testicular differentiation in individuals with 46,XY or 45,X/46,XY karyotypes, respectively. However, it is currently unclear to what extent clinical features actually differ between these individuals. The aim of this study was to compare clinical, laboratory, and histological findings in these 2 groups. Patients with testicular dysgenesis seen in our service between 1989 and 2013 were selected. Sixty-one patients met the inclusion criteria. Individuals with 46,XY and 45,X/46,XY karyotypes were compared regarding genital features, gonadal histology and function, growth, and associated conditions. Twenty-five had mosaicism with a 45,X cell line (MGD), while a 46,XY karyotype (PGD) was found in 36 cases belonging to 32 families. Mutations in <i>NR5A1</i>, <i>WT1</i>, and <i>SRY</i> genes associated with testicular dysgenesis were found in 12 families. There were no significant differences regarding parental consanguinity, degree of external androgenization, gonadal location, histology, and function, and associated conditions. However, in the MGD group, the presence of a uterus, lower birth weight and length, and short stature were more often observed. Therefore, the use of histological features to classify PDG and MGD should be abandoned and replaced by classification based on karyotype.</p>