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Table 2 Disorder of sex development patient cohort and variant summary

From: Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Cohort      DSD gene variants Variant classification (number of patients)
Classification Trios/duos Singletons Total Patients with no DSD variant Patients with curated variant Pathogenic Likely pathogenic VUS
46,XY DSD
(A) Disorders of gonadal (testicular) development
 46,XY Complete gonadal dysgenesis (CGD) 3 21 24 11 13 6 7 0
 46,XY Partial gonadal dysgenesis (PGD) 2 19 21 13 8 2 4 2
 46,XY Ovo-testicular DSD (OT) 3 3 6 4 2 1 1 0
 46,XY Gonadal regression (GR) 0 1 1 1 0 0 0 0
     52 29 23 Genetic diagnosis = 21 (40%)  
(B) Disorders in androgen synthesis or action
 46,XY Suspected androgen syn/action disorder (DASA) 12 23 35 11 24 18 2 4
 46,XY Leydig cell hypoplasia (LCH) 0 1 1 0 1 0 1 0
 46,XY Persistent mullerian duct syndrome (PMDS) 1 0 1 0 1 1 0 0
     37 11 26 Genetic diagnosis = 22 (60%)  
(C) Other
 46,XY Hypospadias 12 34 46 20 26 6 10 10
 46,XY Syndromic 5 4 9 6 3 1 1 1
 46,XY Diphallus 0 1 1 1 0 0 0 0
     56 27 29 Genetic diagnosis = 18 (32%)  
(D) Unknown
 46,XY DSD (origin unknown) 25 108 133 52 81 41 16 24
        Genetic diagnosis = 57 (43%)  
Total 46,XY DSD 63 215 278 119 159 76 42 41
        Genetic diagnosis = 118 (43%)
46,XX DSD
(A) Disorders of gonadal (ovarian) development
 46,XX Testicular DSD 2 14 16 8 8 8 0 0
 46,XX Ovotesticular DSD 2 5 7 6 1 0 0 1
 46,XX Gonadal dysgenesis (GD) 2 1 3 3 0 0 0 0
     26 17 9 Genetic diagnosis = 8 (31%)  
(B) Androgen excess    0      
(C) Other
 46,XX MRKH 0 9 9 9 0 0 0 0
 46,XX Dysplastic ovaries 1 0 1 1 0 0 0 0
 46,XX Syndromic 1 1 2 2 0 0 0 0
     12 12 0    
(D) Unknown
 46,XX DSD (origin unknown) 4 6 10 10 0 0 0 0
Total 46,XX DSD 12 36 48 39 9 8 0 1
        Genetic diagnosis = 8 (17%)  
Total all DSD 75 251 326 158 168 84 42 42
  1. Patients have been categorized based on clinical notes provided, according to the recommended classification of DSD in the Chicago Consensus report [1]. The number of singleton and patients with family members (duos or trios) are shown for each DSD. Given the difficulty of classifying some DSD patients, we have included an “unknown” category for 46,XY undervirilized patients and 46,XX virilized patients with unknown cause. This table also lists the numbers of patients in each DSD classification with a variant in a clinically relevant DSD gene. This is shown as a total number and broken down into variant classifications: pathogenic, likely pathogenic, and variants of uncertain significance (VUS). Variants which are classified as pathogenic or likely pathogenic are considered to be a genetic diagnosis and have been indicated for each phenotypic category. In cases where a patient had variants in multiple genes, the variant with the highest classification (pathogenic > likely pathogenic > VUS) was taken into consideration for this chart. The exact variants in each patient can be found in Additional file 1: Table S1. Entries in bold are subtotals and totals. MRKH Mayer-Rokitansky-Küster-Hauser syndrome