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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPersistent Mullerian duct syndrome, differential diagnosis

Request form illness

Summary

Short information

2 curated single gene sequence analyses according to the clinical suspicion persistent Mullerian duct syndrome

ID
MP5190
Number of genes
2 Accredited laboratory test
Examined sequence length
3,5 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-GReferenz-Seq.Heredity
AMH1683NM_000479.5AR
AMHR21722NM_020547.3AR

Informations about the disease

Clinical Comment

Persistent Mullerian duct syndrome: disorder of sexual development in males with normal male reproductive organs + normal male external genitalia; also have a uterus + fallopian tubes. Uterus + fallopian tubes develop Müllerian duct. Early signs: cryptorchidism, inguinal hernias; often incidentally noticed during surgery

 

Synonyms
  • Female genital ducts in otherwise normal male (AMH, AMHR2)
  • Persistent Mullerian duct syndrome (AMH, AMHR2)
  • Persistent oviduct syndrome (AMH, AMHR2)
  • Pseudohermaphroditism, male internal; hernia uteri inguinale (AMH, AMHR2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined