Deutsch
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 6 core/core candidate genes and altogether 9 guideline-curated genes according to the clinical signs
ID
TP4441
Number of genes
5
Accredited laboratory test
Examined sequence length
5,0 kb (Core-/Core-canditate-Genes)
5,8 kb (Extended panel: incl. additional genes)
5,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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: 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
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q55.2
Bioinformatics and clinical interpretation
No text defined