AMH rs121913346: Understanding Persistent Müllerian Duct Syndrome
The rs121913346 variant is a rare genetic change in the AMH gene associated with Persistent Müllerian Duct Syndrome (PMDS) type 1. This condition affects male sexual development by preventing the normal regression of female reproductive structures during fetal growth.
What each genotype means
Typical AMH function
This genotype represents the most common genetic sequence for this position in the AMH gene. It is not associated with the impaired hormone signaling linked to persistent Müllerian duct syndrome.
This is the predominant genotype found in the general population.
Carrier of AMH variant
You carry one copy of this variant and one typical copy of the AMH gene. Because persistent Müllerian duct syndrome is an autosomal recessive condition, carriers typically do not exhibit symptoms, though you may wish to discuss reproductive implications with a genetic counselor.
This genotype is ultra-rare, with the variant allele occurring at a frequency of less than 0.00005 in global populations.
Potential AMH signaling impairment
This genotype indicates two copies of the variant, which is associated with impaired anti-Müllerian hormone signaling. This may be linked to persistent Müllerian duct syndrome, a condition where individuals with otherwise normal male development retain Müllerian structures like a uterus or fallopian tubes; please consult a specialist for clinical evaluation.
This genotype is extremely rare in the general population.
What is the rs121913346 Variant?
The rs121913346 variant is a specific genetic alteration located within the AMH gene, which is situated on the short arm of chromosome 19 (19p13.3). In genetics, a variant like this represents a change in the DNA sequence that provides instructions for building the anti-Müllerian hormone (AMH) protein. This particular variant is classified as a missense mutation, meaning it causes a single amino acid substitution in the resulting protein structure. Such changes can disrupt the protein's ability to fold correctly, be secreted from cells, or bind to its designated receptor. Because the AMH protein is essential for specific developmental processes, even minor structural changes can lead to significant functional consequences during fetal development. Researchers track these variants to better understand how specific molecular changes translate into observable clinical conditions.
The Role of the AMH Gene
The AMH gene is responsible for producing the anti-Müllerian hormone, a protein that plays a critical role in sex differentiation. During the development of a male fetus, the testes secrete AMH to trigger the regression of the Müllerian ducts, which are the precursors to female reproductive organs like the uterus and fallopian tubes. In the absence of functional AMH, these ducts do not break down as they should. In females, AMH is produced later in life by the ovaries and serves as a regulator of follicular maturation, making it a key marker for ovarian reserve. Because the gene is so central to both male fetal development and female reproductive health, it is a major focus of study in reproductive endocrinology and developmental biology.
Research and Clinical Associations
Scientific research strongly associates mutations in the AMH gene, including those like rs121913346, with Persistent Müllerian Duct Syndrome (PMDS) type 1. PMDS is a rare, autosomal recessive disorder where individuals who are genetically male (XY) retain female reproductive structures, such as a uterus and fallopian tubes, alongside their male reproductive organs. The evidence for this association is considered moderate to strong in clinical genetics, as multiple studies have identified various AMH mutations in patients presenting with these specific developmental findings. While the primary clinical focus is on PMDS, researchers also investigate how AMH variants might influence other reproductive parameters, such as serum hormone levels or fertility markers. It is important to note that clinical presentation can vary, and the presence of a variant does not always guarantee a specific severity of symptoms.
Population Frequency and Interpretation
The rs121913346 variant is classified as ultra-rare, with a minor allele frequency (MAF) reported in databases like gnomAD as less than 0.00005. Because it is so uncommon, it is not typically found in the general population, and its presence is usually identified in the context of clinical diagnostic testing for reproductive or developmental concerns. When interpreting such rare variants, geneticists look for evidence of pathogenicity, such as whether the change is predicted to damage protein function. Because this variant is rare, large-scale population studies are limited, and much of our understanding comes from case reports and clinical observations. If you have received information about this variant, it is essential to discuss the findings with a genetic counselor or a reproductive specialist who can provide context based on your specific clinical history.
What You Can Do With This Information
Genetic information regarding rare variants like rs121913346 is primarily intended for clinical use and diagnostic clarity. If you or a family member have been identified as a carrier or are affected by this variant, the most important step is to consult with a medical professional, such as a reproductive endocrinologist or a clinical geneticist. They can help interpret what this means for your health or family planning. You cannot use this information to self-diagnose or predict health outcomes without professional guidance. Furthermore, because this variant is linked to complex developmental processes, avoid making assumptions about fertility or reproductive health based solely on a genetic report. Always rely on clinical evaluations, such as hormone assays or imaging, which provide a more complete picture of your reproductive physiology than genetic testing alone.
How common is this variant?
The rs121913346 variant is ultra-rare, with a minor allele frequency (MAF) of less than 0.00005 in the gnomAD database.
Frequently asked questions
What is Persistent Müllerian Duct Syndrome?
Persistent Müllerian Duct Syndrome (PMDS) is a rare condition where males are born with female reproductive organs, such as a uterus and fallopian tubes, because the AMH protein failed to signal the regression of these structures during fetal development.
Is rs121913346 a common genetic variant?
No, this variant is considered ultra-rare. It is not commonly found in the general population and is typically only identified through specialized clinical genetic testing.
Can I use this variant to predict my fertility?
Genetic variants in the AMH gene can influence reproductive health, but they should not be used in isolation to predict fertility. You should discuss any concerns about fertility or hormone levels with a reproductive endocrinologist.
What should I do if I have this variant?
If you have been identified as having this variant, you should consult with a genetic counselor or a specialist. They can help you understand the clinical implications and provide guidance based on your personal health history.
Sources & further reading
Educational information only, last refreshed 9/22/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Polymorphism in the anti-Müllerian hormone (AMH) locus associated with variation in ovarian reserve markers and follicular recruitment rates.
Non-synonymous variant (p.Ile49Ser) in anti-Müllerian hormone modifying receptor interaction and associated with circulating AMH bioactivity and follicular recruitment.
Loss-of-function AMH mutation precluding regression of female internal reproductive structures in 46,XY males.