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

TP4441

Number of loci

Locus type	Count
Gen	7

Accredited laboratory test

Examined sequence length

6,4 kb (Core-/Core-canditate-Genes)
8,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CYP21A2	1488	613815	NM_000500.9	AR
NR5A1	1386	184757	NM_004959.5	AD
SOX3	1341	313430	NM_005634.3	XL
SOX9	1530	608160	NM_000346.4	AD
SRY	615	480000	NM_003140.3	YL
RSPO1	792	609595	NM_001038633.4	AR
WT1	1569	607102	NM_024426.6	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined