Klinische Fragestellung46XY - Störungen der Geschlechtsentwicklung, Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 13 bzw. 69 Genen (42 Leitlinien-kuratierte Genen) zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Störungen der 46XY Geschlechtsentwicklung; Mutationanalysen in 13 Genen erfassen die häufigsten Ursachen.
ID
GP0072
Anzahl Gene
49
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,8 kb (Core-/Core-canditate-Gene)
82,4 kb (Erweitertes Panel: inkl. additional genes)
82,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AMH | 1683 | AR | |
AMHR2 | 1722 | AR | |
AR | 2763 | XLR | |
CYP11A1 | 1566 | AR | |
CYP17A1 | 1527 | AR | |
DHH | 1191 | AR | |
HSD17B3 | 933 | AR | |
MAP3K1 | 4539 | AD | |
NR5A1 | 1386 | AD | |
SOX9 | 1530 | AD | |
SRD5A2 | 764 | AR | |
SRY | 615 | XL, YL | |
WT1 | 1569 | AD | |
AKR1C2 | 420 | AR | |
AKR1C4 | 972 | AR | |
ANOS1 | 2043 | XLR | |
CBX2 | 1599 | AR | |
CHD7 | 8994 | AD | |
CYB5A | 297 | AR | |
CYP11B1 | 1512 | AR | |
CYP21A2 | 1488 | AR | |
DHCR7 | 1428 | AR | |
FGF8 | 735 | AD | |
FGFR1 | 2469 | AD | |
FSHB | 390 | AR | |
GATA4 | 1329 | AD | |
GNRH1 | 291 | AR | |
GNRHR | 987 | AR | |
HOXA13 | 1167 | AD | |
HS6ST1 | 1236 | AD | |
HSD3B2 | 1119 | AR | |
KISS1 | 417 | AR | |
LHCGR | 2100 | AD, AR | |
MAMLD1 | 2325 | XLR | |
NR0B1 | 1413 | XL | |
NSMF | 1587 | AD | |
POR | 2043 | AR | |
PROK2 | 390 | AD | |
PROKR2 | 1155 | AD | |
RSPO1 | 792 | AR | |
SAMD9 | 4770 | AD | |
SEMA3A | 2316 | AD | |
SGPL1 | 1721 | AR | |
SOX3 | 1341 | XL | |
STAR | 858 | AR | |
TAC3 | 366 | AR | |
TACR3 | 1398 | AR | |
WDR11 | 3675 | AD | |
ZFPM2 | 3456 | AD |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_GP0072
Synonyme
- Alias: 46XY disorder of sex development; 46XY DSD; 46XY sex reversal 1; 46XY sex reversal 1
- Alias: DSD, disorders of sex determination
- Allelic: 46XX sex reversal 1 (SRY)
- Allelic: 46XX sex reversal 4 (NR5A1)
- Allelic: Acampomelic campomelic dysplasia (SOX9)
- Allelic: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
- Allelic: Adrenocortical insufficiency (NR5A1)
- Allelic: Aldosteronism, glucocorticoid-remediable (CYP11B1)
- Allelic: Campomelic dysplasia (SOX9)
- Allelic: Hypospadias 1, XL (AR)
- Allelic: Mesothelioma, somatic (WT1)
- Allelic: Mullerian aplasia + hyperandrogenism (WNT4)
- Allelic: Nephrotic syndrome, type 4 (WT1)
- Allelic: Premature ovarian failure 7 (NR5A1)
- Allelic: Prostate cancer, susceptibility to (AR)
- Allelic: Spermatogenic failure 8 (NR5A1)
- Allelic: Spinal + bulbar muscular atrophy of Kennedy (AR CAG)
- Allelic: Wilms tumor, type 1 (WT1)
- Intellectual disability [panelapp red] (STARD8)
- 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
- 46,XY disorder of sex development [MONDO:0020040] (ESR2)
- 46XX sex reversal 5 (NR2F2)
- 46XY partial gonadal dysgenesis, with minifascicular neuropathy (DHH)
- 46XY sex reversal 1 (SRX)
- 46XY sex reversal 11 (DHX37)
- 46XY sex reversal 3 (NR5A1)
- 46XY sex reversal 6 (MAP3K1)
- 46XY sex reversal 7 (DHH)
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
- Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
- Adrenal insufficiency, congenital, with 46XY sex reversal, partial/complete (CYP11A1)
- Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
- Allelic: Apert syndrome (FGFR2)
- Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
- Allelic: Congenital heart defects, multiple types, 4 (NR2F2)
- Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
- Allelic: Craniosynostosis, nonspecific (FGFR2)
- Allelic: Crouzon syndrome (FGFR2)
- Allelic: Developmental and epileptic encephalopathy 1 (ARX)
- Allelic: Intellectual developmental disorder, XL 29 (ARX)
- Allelic: Jackson-Weiss syndrome (FGFR2)
- Allelic: Lissencephaly, XL 2 (ARX)
- Allelic: Mullerian aplasia and hyperandrogenism (WNT4)
- Allelic: Ovarian dysgenesis 2 (BMP15)
- Allelic: Ovarian dysgenesis 6 (NUP107)
- Allelic: Ovarian dysgenesis 8 (ESR2)
- Allelic: Partington syndrome (ARX)
- Allelic: Pfeiffer syndrome (FGFR2)
- Allelic: Premature ovarian failure 3 (FOXL2)
- Allelic: Premature ovarian failure 4 (BMP15)
- Allelic: Saethre-Chotzen syndrome (FGFR2)
- Allelic: Scaphocephaly and Axenfeld-Rieger anomaly (FGFR2)
- Allelic: Scaphocephaly, maxillary retrusion + impaired intellectual development (FGFR2)
- Androgen insensitivity (AR)
- Androgen insensitivity, partial, with/-out breast cancer (AR)
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
- Bent bone dysplasia syndrome (FGFR2)
- Blepharophimosis, epicanthus inversus, ptosis, type 1 (FOXL2)
- Blepharophimosis, epicanthus inversus, ptosis, type 2 (FOXL2)
- Campomelic dysplasia with autosomal sex reversal (SOX9)
- Denys-Drash syndrome (WT1)
- Developmental and epileptic encephalopathy 28 (WWOX)
- Frasier syndrome (WT1)
- Galloway-Mowat syndrome 7 (NUP107)
- Hydranencephaly with abnormal genitalia (ARX)
- Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
- IMAGE syndrome (CDKN1C)
- Intellectual disability-hypotonic facies syndrome, XL (ATRX)
- LADD syndrome 1 (FGFR2)
- Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
- Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
- Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
- MIRAGE syndrome (SAMD9)
- Meacham syndrome (WT1)
- Mullerian aplasia and hyperandrogenism
- Multiple synostoses syndrome 3 (FGF9)
- Nephrotic syndrome, type 11 (NUP107)
- Nephrotic syndrome, type 14 (SGPL1)
- Neurodevelopmental disorder with brain anomalies +/- vertebral/cardiac anomalies (DHX37)
- Nivelon-Nivelon-Mabille syndrome (HHAT)
- PCWH syndrome (SOX10)
- Persistent Mullerian duct syndrome, type I (AMH)
- Persistent Mullerian duct syndrome, type II (AMHR2)
- Precocious puberty, male (LHCGR)
- Proud syndrome (ARX)
- Pseudohermaphroditism, male, with gynecomastia (HSD17B3)
- Pseudovaginal perineoscrotal hypospadias (SRD5A2)
- SERKAL syndrome (WNT4)
- Schizencephaly (EMX2)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Spinocerebellar ataxia, AR 12 (WWOX)
- Waardenburg syndrome, type 2E, +/- neurologic involvement (SOX10)
- Waardenburg syndrome, type 4C (SOX10)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
- YL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q55.-
Bioinformatik und klinische Interpretation
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