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

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

Name	Exon Length (bp)	OMIM-G	Heredity
CYP21A2	1488	613815	AR
RSPO1	792	609595	AR
SOX3	1341	313430	XL
SOX9	1530	608160	AD
SRY	615	480000	XL, 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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q55.2

Bioinformatics and clinical interpretation

No text defined