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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
AMH1683NM_000479.5AR
AMHR21722NM_020547.3AR
AR2763NM_000044.6XLR
CYP11A11566NM_000781.3AR, AD
CYP17A11527NM_000102.4AR
DHH1191NM_021044.4AR
HSD17B3933NM_000197.2AR
MAP3K14539NM_005921.2AD
NR5A11386NM_004959.5AD
SOX91530NM_000346.4AD
SRD5A2764NM_000348.4AR
SRY615NM_003140.3YL
WT11569NM_024426.6AD
AKR1C2420NM_001354.6AR
AKR1C4972NM_001818.5AR
ANOS12043NM_000216.4XLR
CBX21599NM_005189.3AR
CHD78994NM_017780.4AD
CYB5A297NM_001914.4AR
CYP11B11512NM_000497.4AR
CYP21A21488NM_000500.9AR
DHCR71428NM_001360.3AR
FGF8735NM_033163.5AD
FGFR12469NM_023110.3AR
FSHB390NM_000510.4AR
GATA41329NM_002052.5AD
GNRH1291NM_000825.3AR
GNRHR987NM_000406.3AR
HOXA131167NM_000522.5AD
HS6ST11236NM_004807.3AD
HSD3B21119NM_000198.4AR
KISS1417NM_002256.4AR
LHCGR2100NM_000233.4AD, AR
MAMLD12325NM_005491.4XLR
NR0B11413NM_000475.5XL
NSMF1587NM_015537.5AD
POR2043NM_001395413.1AR
PROK2390NM_001126128.2AD, AR, Oligo
PROKR21155NM_144773.4AD
RSPO1792NM_001038633.4AR
SAMD94770NM_001193307.2AD
SEMA3A2316NM_006080.3AD
SGPL11721NM_003901.4AR
SOX31341NM_005634.3XL
STAR858NM_000349.3AR
TAC3366NM_013251.4AR
TACR31398NM_001059.3AR
WDR113675NM_018117.12AD
ZFPM23456NM_012082.4AD

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
  • Oligo
  • XL
  • XLR
  • YL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q55.-

Bioinformatik und klinische Interpretation

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