| Entry |
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| Name |
Persistent Mullerian duct syndrome |
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| Description |
Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts.
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| Category |
Reproductive system disease
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| Brite |
Human diseases [BR:br08402]
Reproductive system diseases
Reproductive system diseases
H00609 Persistent Mullerian duct syndrome
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2A Malformative disorders of sex development
H00609 Persistent Mullerian duct syndrome
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| Pathway |
| hsa04060 | Cytokine-cytokine receptor interaction |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Mendonca BB, Domenice S, Arnhold IJ, Costa EM |
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| Title |
46,XY disorders of sex development (DSD). |
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| Journal |
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| Reference |
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| Authors |
Josso N, Belville C, di Clemente N, Picard JY |
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| Title |
AMH and AMH receptor defects in persistent Mullerian duct syndrome. |
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| Journal |
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| Reference |
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| Authors |
Altincik A, Karaca F, Onay H |
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| Title |
Persistent Mullerian duct syndrome: A novel mutation in the Alphanti-Mullerian Etaormone gene. |
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| Journal |
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| LinkDB |
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