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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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Illness46XX - testicular disorders of testes development, non-syndromic; differential diagnosis


Short information

Comprehensive differential diagnostic panel for 46XX - Testicular disorders of testes development, non-syndromic, comprising 6 core/core candidate genes and altogether 9 guideline-curated genes according to the clinical signs

Number of genes
6 Accredited laboratory test
Examined sequence length
6,4 kb (Core-/Core-canditate-Genes)
7,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

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


  • Allelic: 46XY sex reversal 1 (SRY)
  • Allelic: Acampomelic campomelic dysplasia (SOX9)
  • Allelic: Adrenocortical insufficiency (NR5A1)
  • Allelic: Campomelic dysplasia (SOX9)
  • Allelic: Congenital heart defects, multiple types, 4 (NR2F2)
  • Allelic: Mental retardation, XL, with isolated growth hormone deficiency (SOX3)
  • Allelic: Mullerian aplasia and hyperandrogenism (WNT4)
  • Allelic: Nephrotic syndrome, type 4 (WT1)
  • Allelic: Panhypopituitarism, XL (SOX3)
  • Allelic: Premature ovarian failure 7 (NR5A1)
  • Allelic: Spermatogenic failure 8 (NR5A1)
  • Allelic: Wilms tumor, type 1 (WT1)
  • 46XX sex reversal 1 (SRY)
  • 46XX sex reversal 4 (NR5A1)
  • 46XX sex reversal 5 (NR2F2)
  • 46XY sex reversal 3 (NR5A1)
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Denys-Drash syndrome (WT1)
  • Frasier syndrome (WT1)
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
  • Meacham syndrome (WT1)
  • Palmoplantar hyperkeratosis + true hermaphroditism (RSPO1)
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin + sex reversal (RSPO1)
  • SERKAL syndrome (WNT4)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • YL
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined