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: |
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Snomed: |
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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:
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(HPO:0000037) | Male pseudohermaphroditism | Frequent [Orphanet] | 25 / 7739 | |||
|
(HPO:0000022) | Abnormality of male internal genitalia | hallmark [HPO] | 5 / 7739 | |||
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(HPO:0003251) | Male infertility | common [HPO] | 11760020 | IBIS | 14 / 7739 | |
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
|
(HPO:0008689) | Bilateral cryptorchidism | 20% [HPO] | 38 / 7739 | |||
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(HPO:0003117) | Abnormality of circulating hormone level | 50% [HPO] | 1 / 7739 | |||
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(HPO:0000023) | Inguinal hernia | 80% [HPO] | 9302384 | IBIS | 181 / 7739 | |
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(OMIM) | Inguinal uterus and fallopian tubes | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Antimullerian hormone (AMH) defect | 1 / 7739 | ||||
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(OMIM) | Normal penis | 1 / 7739 | ||||
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(OMIM) | Premature centromeric divisions and hypoploid counts | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |