IllnessPersistent Mullerian duct syndrome
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
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
Q55.8
Bioinformatics and clinical interpretation
No text defined