persistent Mullerian duct syndrome
Findings
No curated finding names persistent Mullerian duct syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
Definition from the Mondo Disease Ontology (MONDO:0009857), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral cryptorchidismHPOHP:0008689
- 2 of 2 reported patients · Male
- Decreased circulating antimullerian hormone circulationHPOHP:0031103
- 2 of 2 reported patients
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- Male pseudohermaphroditismHPOHP:0000037
- Frequent (30% to 79% of cases)
- Male infertilityHPOHP:0003251
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AMHR2HGNC:465
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- AMHHGNC:464
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: persistent Mullerian duct syndrome
- Also called
- persistent Mullerian derivativespersistent Müllerian derivativespersistent mullerian duct syndrome, type Ipersistent mullerian duct syndrome, type IIPMDS