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Introduction |
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Investigation of DSD patients |
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46,XY DSD due to ABNORMALITIES OF GONADAL DEVELOPMENT |
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Gonadal agenesis |
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46,XY DSD due to gonadal dysgenesis |
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Complete and partial 46,XY gonadal dysgenesis |
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Embryonic testicular regression syndrome (ETRS) |
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Gonadal dysgenesis associated with syndromic phenotype |
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46,XY DSD due to underexpression of WT1 gene |
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46,XY DSD due to the underexpression of steroidogenic factor-1 (NR5A1/SF1) |
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46,XY DSD due to the underexpression of DMRT1 and DMRT2 genes |
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ATR-X syndrome (X-linked -thalassemia and mental retardation |
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46,XY DSD due to the overexpression of DAX1 (NR0B1) gene |
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46,XY DSD due to the overexpression of WNT4 gene |
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Dysgenetic 46,XY DSD associated with campomelic dysplasia (underexpression of the SOX9) |
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Dysgenetic 46,XY DSD due to Desert hedgehog (DHH) underexpression |
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46,XY DSD ASSOCIATED WITH Cholesterol Synthesis |
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46,XY DSD due to testosterone synthesis defects |
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46,XY DSD due to Leydig cell hypoplasia (complete and partial forms) |
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46,XY DSD due to testosterone synthesis defect |
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Defect in Corticosteroid and Testosterone Synthesis |
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Congenital lipoid adrenal hyperplasia |
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Deficiency of the acute steroidogenesis regulatory protein (StAR) |
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Deficiency of P45011A |
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Deficiency of the acute steroidogenesis regulatory protein (StAR) |
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Deficiency of P450scc |
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3b-Hydroxysteroid Dehydrogenase type II Deficiency |
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CYP17 (17-Hydroxylase and C-17-20 lyase deficiency) |
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Defects in Testicular Steroidogenesis |
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CYP17 (17,20 lyase activity) Deficiency |
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46,XY DSD due to 17b-HSD 3 Deficiency |
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Altered steroidogenesis due to disrupted electron donor proteins |
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Cytochrome P450 reductase (POR) deficiency |
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Methaemoglobinemia, type IV, with 46,XY DSD due to cytochrome b5 defect |
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46,XY DSD due to defects in Testosterone Metabolism |
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5-Reductase type 2 Deficiency |
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46,XY DSD DUE TO DEFECTS IN ANDROGEN ACTION |
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Androgen insensitivity syndrome - complete and partial forms |
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PERSISTENT MÜLLERIAN DUCT SYNDROME |
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Defect in AMH synthesis |
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Defect in AMH receptor |
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Congenital NON-GENETIC 46,XY DSD |
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Maternal intake of endocrine disruptors |
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Congenital non-genetic 46,XY DSD associated to impaired prenatal growth |
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46,XY ovotesticular DSD |
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Non-Classified Forms |
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Hypospadias |
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46,XY gender Identity disorders |
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Male to female transsexualism |
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Management of patients with 46,XY DSD |
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Hormonal Therapy |
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Surgical Treatment |
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Dysgenetic or undescended gonads and tumor development |
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Fertility in patients with 46,XY DSD |
