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