©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

Erkrankung46XY - Störungen der Geschlechtsentwicklung, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 13 bzw. 51 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-/Basis-Gene)
82,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AMH1683AR
AMHR21722AR
AR2763XLR und/oder SMu
CYP11A11566AR
CYP17A11527AR
DHH1191AR
HSD17B3933AR
MAP3K14539AD
NR5A11386AD und/oder AR
SOX91530AD
SRD5A2764AR
SRY615XL/YL
WT11569AD und/oder Dig und/oder SMu und/oder Sus
AKR1C2420AR
AKR1C4972AR
ANOS12043XLR
CBX21599AR
CHD78994AD und/oder Impr
CYB5A297AR
CYP11B11512AD und/oder AR
CYP21A21488AR
DHCR71428AR
FGF8735AD
FGFR12469AD und/oder Dig
FSHB390AR
GATA41329AD
GNRH1291AR
GNRHR987AR und/oder Dig
HOXA131167AD
HS6ST11236AD
HSD3B21119AR
KISS1417AR
LHCGR2100AD und/oder AR
MAMLD12325XLR
NR0B11413XL
NSMF1587AD
POR2043AR
PROK2390AD und/oder Dig
PROKR21155AD und/oder Dig
RSPO1792AR
SAMD94770AD und/oder AR und/oder SMu
SEMA3A2316AD
SGPL11721AR
SOX31341XL
STAR858AR
TAC3366AR
TACR31398AR
WDR113675AD und/oder Dig
ZFPM23456AD

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)
  • 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy (DHH)
  • 46XY sex reversal 1 (SRX)
  • 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)
  • Androgen insensitivity (AR)
  • Androgen insensitivity, partial, with/-out breast cancer (AR)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Denys-Drash syndrome (WT1)
  • Frasier syndrome (WT1)
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
  • IMAGE syndrome (CDKN1C)
  • 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
  • Nephrotic syndrome, type 14 (SGPL1)
  • 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)
  • Smith-Lemli-Opitz syndrome (DHCR7)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AD und/oder Dig
  • AD und/oder Dig und/oder SMu und/oder Sus
  • AD und/oder Impr
  • AR
  • AR und/oder Dig
  • XL
  • XL/YL
  • XLR
  • XLR und/oder SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q55.-

Bioinformatik und klinische Interpretation

Kein Text hinterlegt