Persistent Müllerian Duct Syndrome (PMDS): Disease-Characteristics Research Report

Scope and evidence date. This report synthesizes literature retrieved through December 2024. PMDS is exceptionally rare; consequently, most evidence consists of referral cohorts, retrospective surgical series, case reports, and animal models rather than population studies or controlled trials. Percentages from the 157-case expert series are particularly vulnerable to referral and survivorship bias and should not be interpreted as population risks.

Executive summary

Persistent Müllerian duct syndrome is a congenital, usually autosomal-recessive 46,XY difference/disorder of sex development in which Müllerian derivatives—uterus, fallopian tubes, and upper vagina—persist despite otherwise normal male virilization. Biallelic loss-of-function variants in AMH or AMHR2 explain approximately 86–88% of molecularly investigated cases. Testosterone-dependent differentiation remains intact, explaining the normal male external genitalia and Wolffian derivatives. Clinical recognition usually follows surgery or imaging for cryptorchidism, inguinal hernia, transverse testicular ectopia, or infertility. Management centers on early localization and preservation of viable testes, protection of the vasa deferentia and testicular vessels, selective removal or surveillance of Müllerian remnants, fertility counseling, and tumor surveillance. There is no pharmacological or prenatal treatment capable of reversing an established embryonic developmental anomaly. (liu2022identificationofamh pages 5-6, cima2024persistentmüllerianduct pages 12-13, mullen2019amhandamhr2 pages 1-2)

The following matrix summarizes the most actionable evidence.

Table: Concise evidence matrix covering PMDS definition, genetics, clinical features, diagnosis, outcomes, management, recent advances, and comparative models. Quantitative estimates are tied to their underlying evidence type and should be interpreted cautiously because most human data derive from rare-disease referral cohorts and case series.

1. Disease information

Definition and classification

PMDS is a Mendelian congenital 46,XY DSD characterized by persistent Müllerian structures in an otherwise normally virilized male. It is not synonymous with ambiguous genitalia: Leydig-cell testosterone production and androgen response are ordinarily intact. One recent abstract defines it as “a rare autosomal recessive disorder of sexual development in males, defined by the presence of Müllerian remnants with otherwise normal sexual differentiation.” (liu2022identificationofamh pages 5-6, cima2024persistentmüllerianduct pages 12-13)

Identifiers and synonyms

• MONDO: MONDO:0009857.
• Orphanet: ORPHA:2856.
• OMIM: commonly represented as PMDS type 1/AMH-related disease (OMIM 261550) and PMDS type 2/AMHR2-related disease (OMIM 600956); these identifiers should be checked against the current OMIM release before automated ingestion.
• MeSH: no uniquely granular PMDS descriptor was established in the retrieved evidence; indexing commonly falls under disorders of sex development, cryptorchidism, and Müllerian ducts.
• ICD-10/ICD-11: no PMDS-specific billable code was verified. Coding generally uses congenital malformations/differences of genital development plus cryptorchidism or hernia codes; local coding rules should be applied.
• Synonyms: persistent Müllerian duct syndrome; Müllerian duct persistence syndrome; PMDS; persistent Müllerian derivatives; AMH deficiency/PMDS type 1; AMH-receptor resistance or AMHR2 deficiency/PMDS type 2; historically, hernia uteri inguinalis for one presentation.

OpenTargets independently links MONDO:0009857 and ORPHA:2856 to AMH and AMHR2, with supporting literature including PMIDs 28528332, 8872466, 8162013, and 23295284. (OpenTargets Search: Persistent Mullerian duct syndrome-AMH,AMHR2)

Data provenance: these are aggregated disease-level findings derived from curated resources and published cases/cohorts, not individual EHR data. The 2022 and 2024 clinical publications contain patient-level observations, but this report does not reproduce identifiable patient records.

2. Etiology, risk, protective, and environmental factors

Primary cause

The initiating cause is defective fetal AMH signaling:

1. Type 1 PMDS: biallelic pathogenic AMH variants cause absent, reduced, improperly processed, or biologically inactive ligand.
2. Type 2 PMDS: biallelic pathogenic AMHR2 variants cause receptor deficiency or resistance despite normal or elevated circulating AMH.
3. Genetically unresolved PMDS: approximately 12–14% of historical cases lacked detectable AMH/AMHR2 variants. Rare truncating PPP1R12A variants have subsequently implicated myosin-phosphatase/cytoskeletal regulation in Müllerian regression, but this is not yet as firmly established as AMH/AMHR2 disease. (liu2022identificationofamh pages 5-6, cima2024persistentmüllerianduct pages 12-13, cima2024persistentmüllerianduct pages 17-19)

Risk factors

• Genetic: two pathogenic alleles in AMH or AMHR2; parental consanguinity increases the probability of homozygosity. A recurrent 27-bp AMHR2 kinase-domain deletion was reported in 30 patients, mainly of Northern European ancestry, consistent with a founder-enriched allele. (cima2024persistentmüllerianduct pages 17-19)
• Family history: affected brothers and carrier parents are expected under autosomal-recessive inheritance. Females carrying biallelic defects do not develop the male PMDS anatomy because Müllerian structures are normally retained in females.
• Sex/chromosomal context: the defining phenotype occurs in individuals with testes, usually 46,XY, because failure is specifically failure of male fetal Müllerian regression.

No reproducible environmental, infectious, occupational, dietary, smoking, alcohol, age-related, or lifestyle cause has been demonstrated. No protective genetic allele, diet, medication, or exposure is known. PMDS is established during a critical fetal developmental window; postnatal lifestyle cannot prevent it. Gene–environment interactions, GWAS susceptibility loci, and polygenic risk scores have not been established.

3. Phenotypes

The three canonical anatomical presentations are bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia. Reported proportions differ because categories, referral patterns, and mutation ascertainment differ. (liu2022identificationofamh pages 5-6, cima2024persistentmüllerianduct pages 12-13, mullen2019amhandamhr2 pages 1-2)

Onset and course: the lesion is congenital, but clinical detection ranges from infancy during hernia/cryptorchidism surgery to adulthood during infertility or hematospermia evaluation. Müllerian persistence itself is stable; testicular degeneration, infertility, remnant cysts, and cancer risk are progressive secondary consequences. No behavioral or neuropsychiatric phenotype is established as part of classical biallelic PMDS.

Quality of life: no PMDS-specific EQ-5D, SF-36, PROMIS, or validated patient-reported outcome study was found. Likely burdens include repeated operations, infertility, cancer anxiety, surveillance, and possible psychosocial effects of a DSD diagnosis. These should not be converted into quantitative QOL estimates without direct data.

4. Genetic and molecular information

Causal genes and proteins

• AMH (HGNC symbol AMH; Ensembl ENSG00000104899): TGF-β-superfamily ligand produced by fetal Sertoli cells. Pathogenic mechanism is predominantly germline loss of function.
• AMHR2 (Ensembl ENSG00000135409): ligand-specific transmembrane serine/threonine kinase receptor. Pathogenic mechanisms include impaired expression, trafficking, ligand binding, kinase signaling, or receptor stability. (OpenTargets Search: Persistent Mullerian duct syndrome-AMH,AMHR2, cima2024persistentmüllerianduct pages 17-19)

A 157-case synthesis found AMH variants in 40.4%, AMHR2 variants in 45.7%, and neither in 13.9%. By 2017, 80 families carrying 64 AMH mutations and 75 families carrying 58 AMHR2 alleles had been reported. Variant classes include missense, nonsense, frameshift, splice-site, insertion/deletion, in-frame deletion, and exon-level microdeletion. (liu2022identificationofamh pages 5-6, cima2024persistentmüllerianduct pages 17-19)

Illustrative variants

• AMH NM_000479:c.321_324del, p.Gln109LeufsTer29: homozygous frameshift, predicted loss of function; reported as likely pathogenic.
• AMHR2 c.494_502del, p.Ile165_Ala168delinsThr; p.Glu390Lys; p.Met439Val, and a splice-region variant were found in adult infertility cases; classifications ranged from pathogenic/likely pathogenic to VUS, emphasizing the need for variant-specific ACMG assessment. (liu2022identificationofamh pages 5-6)
• AMHR2 NM_020547.3:c.1046T>C, p.Ile349Thr: 2024 homozygous likely-pathogenic kinase-domain variant; gnomAD frequency 0.00001591, with no homozygotes. The associated phenotype included PMDS and supernumerary testes. (cima2024persistentmüllerianduct pages 7-10)
• Recurrent AMHR2 27-bp kinase-domain deletion: reported in 30 patients, mainly Northern European. (cima2024persistentmüllerianduct pages 17-19)

Variants are constitutional/germline, not somatic drivers. Individual allele frequencies must be retrieved from the current gnomAD release and transcript-matched; most pathogenic alleles are absent or extremely rare. No validated modifier gene, protective allele, anticipation, or recurrent germline mosaicism pattern is established. No disease-defining methylation, histone, chromatin, metabolomic, proteomic, lipidomic, or single-cell signature has been validated.

5. Environmental information

Environmental toxins, radiation, pollution, medications, maternal infection, diet, exercise, smoking, and alcohol have not been established as causes or modifiers. PMDS is not infectious and has no zoonotic transmission. Environmental and lifestyle fields should therefore be recorded as not established/not applicable, rather than “negative exposure.”

6. Mechanism and pathophysiology

Ordered causal chain

1. Biallelic AMH loss-of-function or AMHR2 loss-of-function/resistance leads to insufficient AMH signaling during the male fetal Müllerian-regression window.
2. Insufficient ligand–receptor signaling leads to failure to assemble/activate the AMHR2–type-I BMP receptor complex in Müllerian-duct mesenchyme; ACVR1 and BMPR1A are implicated type-I receptors. (krzeminska2024persistentmullerianduct pages 1-3, mullen2019amhandamhr2 pages 1-2)
3. Reduced receptor serine/threonine-kinase activity leads to deficient downstream SMAD-mediated transcription and mesenchymal remodeling; the exact human cell-death/remodeling sequence is substantially inferred from developmental models rather than directly demonstrated in affected fetuses.
4. Failure of epithelial–mesenchymal regression leads to persistence of uterus, fallopian tubes, and upper vagina.
5. Preserved fetal Leydig-cell testosterone leads to normal Wolffian derivatives, male external genitalia, and usual pubertal virilization, creating the characteristic discordance between external and internal anatomy. (cima2024persistentmüllerianduct pages 12-13)
6. Persistent Müllerian structures and abnormal genito-inguinal ligament/gubernacular shortening lead to mechanically restricted testicular descent, producing bilateral cryptorchidism, hernia uteri inguinalis, or transverse ectopia. (cima2024persistentmüllerianduct pages 12-13)
7. Chronic testicular malposition plus ductal distortion and surgical vulnerability leads to impaired spermatogenesis, obstruction, azoospermia/oligospermia, and infertility.
8. Cryptorchid testicular tissue leads to increased germ-cell tumor risk; retained Müllerian epithelium can independently lead, much less often, to Müllerian-derived malignancy. (cima2024persistentmüllerianduct pages 17-19, liu2022identificationofamh pages 6-8, mullen2019amhandamhr2 pages 1-2)

Upstream: ligand production/processing, AMHR2 binding, receptor trafficking and kinase activity. Downstream: SMAD transcription, Müllerian mesenchymal remodeling, gubernacular/testicular positioning, later heat-associated testicular damage and neoplasia.

Suggested GO annotations: GO:0001701 in utero embryonic development; GO:0008585 female gonad development is not appropriate for the male lesion; use Müllerian duct development/regression where available; GO:0007179 TGF-β receptor signaling pathway; GO:0060395 SMAD protein signal transduction; GO:0007283 spermatogenesis; GO:0043067 regulation of programmed cell death when supported by model-specific evidence. Cell types: Sertoli cell (CL:0000216), Müllerian-duct mesenchymal cell, Müllerian-duct epithelial cell, Leydig cell (CL:0000178), germ cell/spermatogonium. Subcellular sites: secretory pathway for AMH; plasma membrane and cytoplasmic kinase domain for AMHR2; cytosol/nucleus for SMAD transduction.

There is no established primary metabolic, immune, inflammatory, oxidative-stress, mitochondrial, lysosomal, or ion-channel mechanism. Advanced single-cell, spatial-transcriptomic, and multi-omics studies directly profiling human PMDS were not found.

7. Anatomical structures affected

Primary: Müllerian ducts and derivatives—uterus, uterine tubes, cervix/upper vagina—plus testes whose descent is mechanically disturbed. Secondary: epididymides, vasa deferentia, seminal outflow tract, gubernacula, inguinal canals, and scrotum. Müllerian remnants may be midline; testes may be bilateral intra-abdominal, unilateral, inguinal, crossed, or both on one side. (cima2024persistentmüllerianduct pages 12-13, liu2022identificationofamh pages 6-8)

Suggested UBERON mappings: Müllerian duct; uterus (UBERON:0000995); uterine tube (UBERON:0003889); vagina (UBERON:0000996); testis (UBERON:0000473); vas deferens (UBERON:0001000); epididymis (UBERON:0001301); gubernaculum; inguinal canal; scrotum. IDs should be validated against the current ontology release before ingestion.

8. Temporal development

• Initiation: congenital, during fetal sex differentiation and Müllerian regression.
• Early clinical stage: cryptorchidism, inguinal hernia, or ectopia in infancy/childhood.
• Intermediate: repeated orchiopexy, re-ascent, remnant cysts, or progressive testicular atrophy.
• Adult presentation: infertility, azoospermia/oligospermia, hematospermia, or tumor.
• Course: lifelong unless remnants are removed; complications accumulate variably rather than following a standardized staging system.

The principal intervention window is early childhood, when recognition during cryptorchidism/hernia assessment can prevent repeated surgery and permit timely orchiopexy. A 2024 case underwent multiple operations before molecular recognition, illustrating the real-world cost of low awareness. (cima2024persistentmüllerianduct pages 12-13, cima2024persistentmüllerianduct pages 7-10)

9. Inheritance and population

PMDS is usually autosomal recessive and sex-limited in phenotypic expression. Penetrance of Müllerian persistence appears high for biallelic severe AMH/AMHR2 defects, whereas the position and viability of testes and fertility show variable expressivity. Anticipation is not expected. De novo variants are reported but uncommon. Consanguinity is relevant; founder enrichment exists for the recurrent AMHR2 deletion. (cima2024persistentmüllerianduct pages 12-13, cima2024persistentmüllerianduct pages 17-19)

No defensible population prevalence or annual incidence per 100,000 was identified. Statements such as “fewer than 300 cases reported” measure publication rarity, not prevalence. PMDS occurs globally; no ethnicity is intrinsically protected. The affected clinical sex ratio is effectively male because the defining internal/external discordance requires testes and male differentiation.

10. Diagnostics

Practical diagnostic pathway

1. Suspect PMDS in bilateral/nonpalpable cryptorchidism, both testes on one side, transverse ectopia, recurrent inguinal hernia, or an unexpected uterus/tube at surgery.
2. Map anatomy: high-resolution inguinoscrotal and pelvic ultrasound; pelvic MRI when anatomy is uncertain; diagnostic laparoscopy remains highly informative.
3. Establish sex-development context: karyotype or chromosome analysis, typically 46,XY; document external virilization and palpable gonads.
4. Laboratory testing: AMH, inhibin B, testosterone, LH and FSH; tumor markers AFP, β-hCG and LDH when a mass is present. Very low AMH supports AMH deficiency; normal/high AMH supports AMHR2 resistance, but normal AMH does not exclude PMDS. A 2022 series reported AMH values of 0.06, 3.21 and 7.72 ng/mL across genetically distinct cases. (liu2022identificationofamh pages 2-5)
5. Genetics: sequence and deletion/duplication analysis of AMH and AMHR2. A DSD/cryptorchidism panel or WES is appropriate when first-line testing is negative; ensure CNV detection because AMHR2 microdeletions can be missed. WGS may resolve regulatory/structural variants, but its incremental PMDS yield is not established.
6. Pathology: verify Müllerian epithelium/smooth muscle and assess testicular maturation, atrophy, germ-cell neoplasia, or malignancy.

In a molecular study, 3 of 11 unrelated cryptorchidism patients carried biallelic AMH/AMHR2 variants, and MRI identified Müllerian remnants in all three—supporting genetics and MRI in selected cryptorchidism rather than universal screening. (liu2022identificationofamh pages 6-8, liu2022identificationofamh pages 2-5)

Not routinely indicated: mitochondrial sequencing, repeat-expansion testing, FISH, metabolomics, proteomics, liquid biopsy, or epigenomic testing. CMA/karyotype is useful when syndromic features or another DSD is suspected but will not detect most single-gene PMDS.

Differential diagnosis: androgen-insensitivity syndrome, 46,XY gonadal dysgenesis, testosterone-biosynthesis defects, mixed gonadal dysgenesis, ovotesticular DSD, congenital bilateral cryptorchidism without Müllerian persistence, and nonsyndromic transverse testicular ectopia. Normal male virilization plus uterus/tubes and AMH/AMHR2 biallelic variants strongly favors PMDS. Müllerian remnants can rarely coexist with another DSD, so anatomy alone is insufficient.

Screening: no newborn population screening. Offer cascade testing to siblings and carrier testing to relatives after a molecular diagnosis.

11. Outcome and prognosis

Life expectancy is generally expected to be near normal when cryptorchidism and tumors are appropriately managed, but no 5-year, 10-year, mortality, or life-expectancy cohort was found. Morbidity is reproductive and surgical rather than multisystemic.

Fertility is uncommon but possible when at least one testis is scrotal and its ductal drainage remains intact. Approximately 19% reportedly fathered a child naturally in compiled cases. TESE/micro-TESE with ICSI may enable biological paternity; in one very small series, micro-TESE retrieved sperm in 1/2 azoospermic men. (liu2022identificationofamh pages 6-8, krzeminska2024persistentmullerianduct pages 1-3, mullen2019amhandamhr2 pages 1-2)

A selected expert series reported testicular malignant degeneration in 33% of adults, whereas other reviews gave approximately 3.1–8.4% or 5–18%. The 33% figure should not be used for individual counseling as a population estimate; ascertainment and prolonged untreated cryptorchidism likely inflate it. Müllerian-remnant malignancies—adenocarcinoma, adenosarcoma and others—are documented but rarer. (cima2024persistentmüllerianduct pages 17-19, liu2022identificationofamh pages 6-8, mullen2019amhandamhr2 pages 1-2)

Prognosis is better with early testicular descent, at least one viable scrotal testis, intact vasa, avoidance of repeated operations, and absence of malignancy. No validated prognostic biomarker or calculator exists.

12. Treatment and current implementation

There is no drug, hormone, gene therapy, RNA therapy, cell therapy, or immunotherapy that can regress established Müllerian organs postnatally. Treatment is anatomical and preventive.

• Orchiopexy for viable testes, preferably early; NCIT suggestion: Orchiopexy.
• Laparoscopic exploration/dissection to define shared blood supply and vas anatomy; NCIT: Laparoscopic Surgical Procedure.
• Selective subtotal/complete Müllerian-remnant excision or hysterectomy when safely separable, symptomatic, cystic, or suspicious; NCIT: Hysterectomy/Surgical Resection.
• Preservation with surveillance when excision threatens the vas deferens or testicular vessels.
• Orchidectomy for nonviable/atrophic testis or malignancy concern; NCIT: Orchiectomy.
• Fertility care: semen analysis, cryopreservation when sperm are present, TESE/micro-TESE and ICSI; NCIT: Sperm Cryopreservation, Testicular Sperm Extraction, Intracytoplasmic Sperm Injection.
• Supportive care: genetic counseling, endocrine follow-up where gonadal function is compromised, tumor surveillance, and psychosocial DSD-informed care.

There is no consensus guideline on routine uterus removal. In a 12-patient Chinese series, 8 underwent orchiopexy with uterine preservation; 3 developed remnant cysts. Of 3 undergoing subtotal hysterectomy, one sustained vas injury and one postoperative hemorrhage. These observations support individualized, anatomy-preserving surgery rather than mandatory excision. (cima2024persistentmüllerianduct pages 16-17)

No PMDS-specific interventional ClinicalTrials.gov study was identified. Pharmacogenomic guidance is not applicable to the congenital lesion.

13. Prevention

• Primary prevention: no lifestyle or vaccine prevention. In known families, carrier testing, genetic counseling, prenatal diagnosis, and PGT-M are technically possible after identifying familial variants; use requires nondirective counseling.
• Secondary prevention: early recognition in cryptorchidism/hernia, preoperative imaging and AMH/genetic testing, and cascade testing can reduce delayed diagnosis and repeated surgery.
• Tertiary prevention: timely orchiopexy, preservation of vas/vessels, fertility preservation, surveillance of testes and retained remnants, and prompt evaluation of masses, pain, bleeding, or hematospermia.

For an autosomal-recessive couple in which both partners carry the same disease-causing gene defect, each pregnancy has a 25% probability of biallelic inheritance; phenotypic consequences depend on fetal sex and gonadal development. No public-health or environmental intervention is indicated.

14. Other species and natural disease

Naturally occurring PMDS is best characterized in the domestic dog (Canis lupus familiaris, NCBI Taxon 9615), particularly Miniature Schnauzers. A sex-limited recessive AMHR2 c.241C>T, p.Arg81Ter nonsense allele prevents signaling. Among 216 North American Miniature Schnauzers, allele frequency was 0.16 and carrier frequency 0.27; approximately half of affected dogs had unilateral or bilateral cryptorchidism. Retained oviducts, uterus, cervix and cranial vagina, pyometra, infertility, and Sertoli-cell tumors have veterinary relevance. (mullen2019amhandamhr2 pages 4-5, smit2018prevalenceofthe pages 1-2)

A 2024 canine preprint found that GC-rich repetitive AMH exon 5 is poorly covered by WGS/RNA-seq and that AMHR2 annotation differs markedly among canine assemblies. It recommends targeted resequencing of unresolved cases in Yorkshire Terriers and other breeds. This is a computational/preprint result, not yet definitive evidence of new causal alleles. (krzeminska2024persistentmullerianduct pages 3-7, krzeminska2024persistentmullerianduct pages 7-9, krzeminska2024persistentmullerianduct pages 12-17)

PMDS is not transmissible or zoonotic. Veterinary prevention consists of genotyping and avoiding carrier-to-carrier matings, not infection control.

15. Model organisms

Mouse

Targeted Amh-null and Amhr2-null male mice retain a uterus, oviducts, and partial vagina despite normal testes and Wolffian structures, closely recapitulating the developmental core of human PMDS. Amhr2-null males can reproduce, but at less than a 50% rate and with smaller litters; focal seminiferous epithelial atrophy appears by 2 months and markedly reduces spermatogenesis by 9 months. These models support studies of ligand/receptor signaling, Müllerian regression, testicular descent, duct anatomy, and fertility. (mullen2019amhandamhr2 pages 4-5)

Limitations: mouse fertility is better preserved than in many clinical cases; surgical history and prolonged human cryptorchidism are not reproduced; species-specific reproductive anatomy differs; and constitutive knockouts do not model every human missense allele’s trafficking or residual function.

Other experimental systems

Cell-based receptor assays can distinguish deficient AMH processing, receptor binding, trafficking, and kinase signaling. A 2024 biochemical study improved AMH precursor cleavage to over 90% and engineered variants with approximately 5- to 10-fold greater in-vitro potency; this clarifies receptor-complex assembly but is not a PMDS therapy. No validated PMDS patient-derived organoid, iPSC, CRISPR-screen, spatial-transcriptomic, or humanized model was identified.

Recent developments and expert interpretation

1. Expanded genotype/phenotype spectrum: the 2024 AMHR2 p.Ile349Thr report links a very rare kinase-domain variant to PMDS with supernumerary testes and demonstrates why normal serum AMH should trigger receptor-focused analysis. Its abstract emphasizes that “a high degree of suspicion and awareness is needed … to avoid iterative surgery.” (cima2024persistentmüllerianduct pages 7-10)
2. Beyond AMH/AMHR2: genetically unresolved cases and reported PPP1R12A truncations suggest additional cytoskeletal/remodeling pathways, but evidence remains limited and should not displace AMH/AMHR2 first-line testing. (cima2024persistentmüllerianduct pages 12-13, cima2024persistentmüllerianduct pages 17-19)
3. Precision surgery rather than uniform hysterectomy: experts prioritize descended viable testes and intact vasa over complete Müllerian removal because remnants and male excretory ducts may share close attachments and blood supply. The small Chinese cohort quantifies both preservation-related cysts and excision-related injuries. (cima2024persistentmüllerianduct pages 16-17)
4. Sequencing blind spots matter: AMHR2 CNVs and GC-rich AMH regions can evade routine analysis; negative panel/WES results do not exclude pathway disease. Canine comparative genomics reinforces this methodological concern. (krzeminska2024persistentmullerianduct pages 3-7, krzeminska2024persistentmullerianduct pages 7-9, krzeminska2024persistentmullerianduct pages 12-17)

Evidence gaps and knowledge-base cautions

No reliable population incidence, prevalence, carrier frequency, survival curve, standardized QOL result, evidence-based surveillance interval, prospective surgical comparison, or interventional trial exists. Phenotype and malignancy percentages derive from heterogeneous published/referral cases. Ontology IDs—especially granular HPO, UBERON, CL, NCIT and legacy OMIM mappings—should be programmatically validated against current releases before ingestion. Exact abstract quotations are necessarily sparse because several mechanistic sources were reviews or full-text excerpts rather than accessible PubMed abstracts.

References

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2. (cima2024persistentmüllerianduct pages 12-13): Luminita Nicoleta Cima, Iustina Grosu, Isabela Magdalena Draghici, Augustina Cornelia Enculescu, Adela Chirita-Emandi, Nicoleta Andreescu, Maria Puiu, Carmen Gabriela Barbu, and Simona Fica. Persistent müllerian duct syndrome with supernumerary testicles due to a novel homozygous variant in the amhr2 gene and literature review. Diagnostics, 14:2621, Nov 2024. URL: https://doi.org/10.3390/diagnostics14232621, doi:10.3390/diagnostics14232621. This article has 3 citations.

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13. (krzeminska2024persistentmullerianduct pages 3-7): Paulina Krzeminska. Persistent mullerian duct syndrome in dogs – a new insight into organization of amh and amhr2 genes. bioRxiv, Dec 2024. URL: https://doi.org/10.1101/2024.11.28.625841, doi:10.1101/2024.11.28.625841. This article has 1 citations.

14. (krzeminska2024persistentmullerianduct pages 7-9): Paulina Krzeminska. Persistent mullerian duct syndrome in dogs – a new insight into organization of amh and amhr2 genes. bioRxiv, Dec 2024. URL: https://doi.org/10.1101/2024.11.28.625841, doi:10.1101/2024.11.28.625841. This article has 1 citations.

15. (krzeminska2024persistentmullerianduct pages 12-17): Paulina Krzeminska. Persistent mullerian duct syndrome in dogs – a new insight into organization of amh and amhr2 genes. bioRxiv, Dec 2024. URL: https://doi.org/10.1101/2024.11.28.625841, doi:10.1101/2024.11.28.625841. This article has 1 citations.

Artifacts

• Edison artifact artifact-00

Reference Validation

Checked with linkml-reference-validator 0.2.1.

All extracted references resolved successfully.

Term Validation

Checked with linkml-term-validator 0.4.5, through the ols: adapter.

Terms the report names something else

These identifiers resolve, so nothing about them looks wrong, and the ontology calls them something unrelated to what the report calls them. That usually means the identifier is not the one the sentence needs:

• MONDO:0009857 (5 mentions) - the report calls it "if available"; MONDO calls it persistent Mullerian duct syndrome

Prefixes with no resolver

Terms carrying these prefixes were not checked either way, because no configured ontology covers them. An unrecognised prefix may name an ontology this run could not reach as easily as one that does not exist, so nothing here is evidence of fabrication: Orphanet, ORPHA.