Klinische Fragestellung46XY - Störungen der Testes-Entwicklung, nicht-syndromisch; Differentialdiagnose

NGS +

https://register.awmf.org/de/leitlinien/detail/006-022

• Alias: 46XY complete gonadal dysgenesis
• Alias: 46XY disorder of sex development (DSD)
• Allelic: 46XX sex reversal 1 (SRY)
• Allelic: 46XX sex reversal 4 (NR5A1)
• Allelic: Acampomelic campomelic dysplasia (SOX9)
• Allelic: Adrenal hypoplasia, congenital (NR0B1)
• Allelic: Adrenocortical insufficiency (NR5A1)
• Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
• Allelic: Atrial septal defect 2 (GATA4)
• Allelic: Atrioventricular septal defect 4 (GATA4)
• Allelic: Campomelic dysplasia (SOX9)
• Allelic: Developmental + epileptic encephalopathy 1 (ARX)
• Allelic: Hypospadias 1, XL (AR)
• Allelic: Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
• Allelic: Lissencephaly, XL 2 (ARX)
• Allelic: Luteinizing hormone resistance, female (LHCGR)
• Allelic: Mental retardation, XL 29 + others (ARX)
• Allelic: Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Allelic: Mesothelioma, somatic (WT1)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Partington syndrome (ARX)
• Allelic: Precocious puberty, male (LHCGR)
• Allelic: Premature ovarian failure 7 ((NR5A1)
• Allelic: Prostate cancer, susceptibility to (AR)
• Allelic: Spinal + bulbar muscular atrophy of Kennedy (AR_CAG)
• Allelic: Tetralogy of Fallot (GATA4)
• Allelic: Ventricular septal defect 1 (GATA4)
• Allelic: Wilms tumor, type 1 (WT1)
• 17,20-lyase deficiency, isolated (CYP17A1)
• 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
• 46XY gonadal dysgenesis with minifascicular neuropathy (DHH)
• 46XY sex reversal 1 (SRY)
• 46XY sex reversal 2, dosage-sensitive (NR0B1)
• 46XY sex reversal 3 (NR5A1)
• 46XY sex reversal 5 (CBX2)
• 46XY sex reversal 6 (MAP3K1)
• 46XY sex reversal 7 (DHH)
• 46XY sex reversal 8 (AK1C2)
• 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)
• Alpha-thalassemia/mental retardation syndrome (ATRX)
• 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)
• Denys-Drash syndrome (WT1)
• Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
• Frasier syndrome (WT1)
• Hydranencephaly with abnormal genitalia (ARX)
• Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
• Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
• Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
• Lipoid adrenal hyperplasia (STAR)
• Meacham syndrome (WT1)
• Proud syndrome (ARX)
• Pseudohermaphroditism, male, with gynecomastia (HSD17B3)
• Pseudovaginal perineoscrotal hypospadias (SRD5A2)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Spermatogenic failure (DMRT1)
• Spermatogenic failure 8 (NR5A1)
• Testicular anomalies with/-out congenital heart disease (GATA4)