Persistent Müllerian duct syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE
HERNIA UTERI INGUINALE
PSEUDOHERMAPHRODITISM, MALE INTERNAL
PERSISTENT OVIDUCT SYNDROME
PMDS
Persistent Müllerian derivatives
Number of Symptoms 13
OrphanetNr: 2856
OMIM Id: 261550
ICD-10: Q55.8
UMLs: C1849930
MeSH: C536665
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XY disorder of sex development of endocrine origin
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
(HPO:0000037) Male pseudohermaphroditism Frequent [Orphanet] 25 / 7739
2
(HPO:0000022) Abnormality of male internal genitalia hallmark [HPO] 5 / 7739
3
(HPO:0003251) Male infertility common [HPO] 11760020 IBIS 14 / 7739
4
(HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
5
(HPO:0008689) Bilateral cryptorchidism 20% [HPO] 38 / 7739
6
(HPO:0003117) Abnormality of circulating hormone level 50% [HPO] 1 / 7739
7
(HPO:0000023) Inguinal hernia 80% [HPO] 9302384 IBIS 181 / 7739
8
(HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
9
(OMIM) Inguinal uterus and fallopian tubes 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Antimullerian hormone (AMH) defect 1 / 7739
12
(OMIM) Normal penis 1 / 7739
13
(OMIM) Premature centromeric divisions and hypoploid counts 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991).
Clinical Description OMIM The typical case is that of a male with bilateral cryptorchidism and inguinal hernias but normal male external genitalia otherwise. At the time of hernia repair, a uterus and fallopian tubes are found in the inguinal canal. The ...
Molecular genetics OMIM Knebelmann et al. (1991) demonstrated a missense mutation in the AMH gene in a patient with AMH-negative persistent mullerian duct syndrome (600957.0001).

PMDS is biologically heterogeneous: in some cases, bioactive AMH is normally expressed by testicular ...