AMH

AMH encodes anti-Mullerian hormone (560 aa). The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions. Highest expression in Testis (30.3 TPM) and Brain Cerebellum (19.0 TPM).

Persistent Mullerian duct syndrome is associated with mutations in the AMH gene on chromosome 19.

The AMH protein participates in SOX9:NR5A1:GATA4:AMH gene, Expression of AMH in testis differentiation, and SOX9, NR5A1 (SF1), and GATA4 bind the AMH gene pathways.

AMH is classified as a druggable target (Druggable Genome, Growth Factor, Hormone Activity, and Transcription Factor categories) with score 3.1.

AMHR2

AMHR2 encodes anti-Mullerian hormone receptor type 2 (573 aa). On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Highest expression in Adrenal Gland (55.3 TPM) and Ovary (48.3 TPM).

Persistent Mullerian duct syndrome is associated with mutations in the AMHR2 gene on chromosome 12.

AMHR2 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 2.7.

Genetic testing for AMH, AMHR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for persistent Mullerian duct syndrome has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for persistent Mullerian duct syndrome.

33 publications have been identified in PubMed for persistent Mullerian duct syndrome. Research spans Case Report / Case Series (76%), Diagnostic / Biomarker (6%), and Review / Meta-Analysis (6%).

Recent Publications

• Krimi O (2026). [PMID: 42256664](https://pubmed.ncbi.nlm.nih.gov/42256664/). *Urol Case Rep*. [Case Report / Case Series]

• Cação J (2026). [PMID: 41911204](https://pubmed.ncbi.nlm.nih.gov/41911204/). *Rev Fac Cien Med Univ Nac Cordoba*. [Case Report / Case Series]

• Shen S (2026). [PMID: 41960975](https://pubmed.ncbi.nlm.nih.gov/41960975/). *Clin Nucl Med*. [Diagnostic / Biomarker]

• Karimi M (2026). [PMID: 42261518](https://pubmed.ncbi.nlm.nih.gov/42261518/). *Cureus*. [Case Report / Case Series]

• Vudata SP (2025). [PMID: 39968255](https://pubmed.ncbi.nlm.nih.gov/39968255/). *Journal of Indian Association of Pediatric Surgeons*. [Case Report / Case Series]

• Sahoo N (2025). [PMID: 41171955](https://pubmed.ncbi.nlm.nih.gov/41171955/). *Indian journal of pathology & microbiology*. [Basic Science / Preclinical]

• Rajendran GB (2025). [PMID: 39654562](https://pubmed.ncbi.nlm.nih.gov/39654562/). *Radiology case reports*. [Case Report / Case Series]

• Rauf Khalid A (2025). [PMID: 40109826](https://pubmed.ncbi.nlm.nih.gov/40109826/). *Cureus*. [Epidemiology / Natural History]

• Abe S (2025). [PMID: 40350695](https://pubmed.ncbi.nlm.nih.gov/40350695/). *Hinyokika kiyo. Acta urologica Japonica*. [Case Report / Case Series]

• Tsaregorodtseva AD (2025). [PMID: 40900308](https://pubmed.ncbi.nlm.nih.gov/40900308/). *Arkhiv patologii*. [Case Report / Case Series]