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Illness46XY - disorders of sexual development, differential diagnosis

Summary

Short information

A curated panel containing 69 genes (42 guideline-curated genes) for the comprehensive analysis of practically all known genetic causes of 46XY disorders of sexual development; mutations in 13 genes cover the most frequent mutations.

ID
GP0072
Number of genes
49 Accredited laboratory test
Examined sequence length
21,8 kb (Core-/Core-canditate-Genes)
82,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
AMH1683AR
AMHR21722AR
AR2763XLR
CYP11A11566AR
CYP17A11527AR
DHH1191AR
HSD17B3933AR
MAP3K14539AD
NR5A11386AD
SOX91530AD
SRD5A2764AR
SRY615XL, YL
WT11569AD
AKR1C2420AR
AKR1C4972AR
ANOS12043XLR
CBX21599AR
CHD78994AD
CYB5A297AR
CYP11B11512AR
CYP21A21488AR
DHCR71428AR
FGF8735AD
FGFR12469AD
FSHB390AR
GATA41329AD
GNRH1291AR
GNRHR987AR
HOXA131167AD
HS6ST11236AD
HSD3B21119AR
KISS1417AR
LHCGR2100AD, AR
MAMLD12325XLR
NR0B11413XL
NSMF1587AD
POR2043AR
PROK2390AD
PROKR21155AD
RSPO1792AR
SAMD94770AD
SEMA3A2316AD
SGPL11721AR
SOX31341XL
STAR858AR
TAC3366AR
TACR31398AR
WDR113675AD
ZFPM23456AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_GP0072

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • YL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q55.-

Bioinformatics and clinical interpretation

No text defined