ErkrankungWT1-Erkrankung; DD Störungen der Testes-Entwicklung + DSD

NGS +

• Wilms tumor, type 1 (WT1)
• Denys-Drash syndrome (WT1)
• Frasier syndrome (WT1)
• Meacham syndrome (WT1)
• Mesothelioma, somatic (WT1)
• Nephrotic syndrome, type 4 (WT1)
• 17,20-lyase deficiency, isolated (CYp17A1)
• 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
• 46XX sex reversal 1 (SRY)
• 46XX sex reversal 4 (NR5A1)
• 46XY disorder of testicular development [genereviews] (DMRT1)
• 46XY gonadal dysgenesis with minifascicular neuropathy (DHH)
• 46XY sex reversal 1 (SRY)
• 46XY sex reversal 3 (NR5A1)
• 46XY sex reversal 5 (CBX2)
• 46XY sex reversal 6 (MAP3K1)
• 46XY sex reversal 7 (DHH)
• 46XY sex reversal 8 (AKR1C2)
• 46XY sex reversal 8, modifier of (AKR1C4)
• Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
• Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
• Adrenocortical insufficiency (NR5A1)
• Allelic: Acampomelic campomelic dysplasia (SOX9)
• Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
• Allelic: Campomelic dysplasia (SOX9)
• Allelic: Tetralogy of Fallot (GATA4)
• Androgen insensitivity (AR)
• Androgen insensitivity, partial, with/-out breast cancer (AR)
• Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
• Hypospadias 1, XL (AR)
• Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
• Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
• Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
• Lipoid adrenal hyperplasia (STAR)
• Luteinizing hormone resistance, female (LHCGR)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Partington syndrome (ARX)
• Precocious puberty, male (LHCGR)
• Proud syndrome (ARX)
• Pseudohermaphroditism, male, with gynecomastia (HSD17B3)
• Pseudovaginal perineoscrotal hypospadias (SRD5A2)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Spinal + bulbar muscular atrophy of Kennedy (AR)