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Interdisciplinary CompetenceMolecular Diagnostics
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Illness46XX - testicular disorders of testes development, non-syndromic; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for 46XX - Testicular disorders of testes development (non-syndromic) comprising 5 guideline-curated and altogether 5 curated genes according to the clinical signs

ID
TP4441
Number of genes
5 Accredited laboratory test
Examined sequence length
5,8 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CYP21A21488AR
RSPO1792AR
SOX31341XL
SOX91530AD
SRY615XL, YL

Informations about the disease

Clinical Comment

Group of disorders of sex development associated with 46XX karyotype and normal to atypical male external genitalia including testosterone deficiency

 

Synonyms
  • Allelic: 46XY sex reversal 1 (SRY)
  • Allelic: Acampomelic campomelic dysplasia (SOX9)
  • Allelic: Campomelic dysplasia (SOX9)
  • Allelic: Mental retardation, XL, with isolated growth hormone deficiency (SOX3)
  • Allelic: Panhypopituitarism, XL (SOX3)
  • 46XX sex reversal 1 (SRY)
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
  • Palmoplantar hyperkeratosis + true hermaphroditism (RSPO1)
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin + sex reversal (RSPO1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • YL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q55.2

Bioinformatics and clinical interpretation

No text defined