Deutsch
Illness46XY - disorders of testes development, non-syndromic; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for 46XY - Disorders of testes development, primarily non-syndromic, comprising 23 guideline- curated genes and altogether 25 curated genes according to the clinical signs
ID
TP4440
Number of loci
| Locus type | Count |
|---|---|
| Gen | 24 |
Examined sequence length
23,4 kb (Core-/Core-canditate-Genes)
42,4 kb (Extended panel: incl. additional genes)
42,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| AKR1C4 | 972 | NM_001818.5 | AR | |
| AR | 2763 | NM_000044.6 | XLR | |
| CBX2 | 1599 | NM_005189.3 | AR | |
| CYP11A1 | 1566 | NM_000781.3 | AR, AD | |
| CYP17A1 | 1527 | NM_000102.4 | AR | |
| DHH | 1191 | NM_021044.4 | AR | |
| HSD17B3 | 933 | NM_000197.2 | AR | |
| HSD3B2 | 1119 | NM_000198.4 | AR | |
| LHCGR | 2100 | NM_000233.4 | AD, AR | |
| MAP3K1 | 4539 | NM_005921.2 | AD | |
| NR0B1 | 1413 | NM_000475.5 | XL | |
| NR5A1 | 1386 | NM_004959.5 | AD | |
| SRD5A2 | 764 | NM_000348.4 | AR | |
| SRY | 615 | NM_003140.3 | YL | |
| STAR | 858 | NM_000349.3 | AR | |
| AKR1C2 | 420 | NM_001354.6 | AR | |
| ANOS1 | 2043 | NM_000216.4 | XLR | |
| ATRX | 7479 | NM_000489.6 | XL | |
| DHCR7 | 1428 | NM_001360.3 | AR | |
| DMRT1 | 1122 | NM_021951.3 | AD | |
| GATA4 | 1329 | NM_002052.5 | AD | |
| POR | 2043 | NM_001395413.1 | AR | |
| SOX9 | 1530 | NM_000346.4 | AD | |
| WT1 | 1569 | NM_024426.6 | AD |
Informations about the disease
Clinical Comment
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
- YL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined