AMH rs121913347: Understanding Persistent Müllerian Duct Syndrome
The rs121913347 variant is a rare genetic change in the AMH gene associated with Persistent Müllerian Duct Syndrome (PMDS). This condition occurs in 46,XY males and is characterized by the presence of female reproductive structures, such as a uterus and fallopian tubes, alongside normal male anatomy.
What each genotype means
Typical AMH function
This genotype represents the common, functional version of the AMH gene. Individuals with this profile produce the anti-Müllerian hormone necessary for typical male reproductive development during fetal life.
This is the most common genotype found in the general population.
Carrier of AMH variant
This individual carries one copy of the functional gene and one copy of the pathogenic variant. Because Persistent Müllerian duct syndrome is an autosomal recessive condition, carriers typically do not exhibit symptoms but may pass the variant to their offspring.
This genotype is extremely rare in the general population, as the pathogenic variant is primarily identified in clinical settings.
Potential AMH deficiency
This genotype indicates the presence of two copies of the pathogenic variant, which is associated with Persistent Müllerian duct syndrome in 46,XY individuals. This condition prevents the regression of female reproductive structures during male fetal development, often resulting in the presence of a uterus and fallopian tubes in males.
This genotype is extremely rare and is typically only identified in individuals diagnosed with Persistent Müllerian duct syndrome.
What is the rs121913347 Variant?
The rs121913347 variant is a specific change in the DNA sequence of the AMH gene. In genetics, a variant is a permanent alteration in the DNA sequence that makes up a gene. This particular variant is classified as a loss-of-function mutation, meaning it prevents the gene from producing a functional protein or significantly reduces its activity. Because the AMH gene provides instructions for making the anti-Müllerian hormone, changes like rs121913347 can disrupt the normal biological processes that this hormone regulates during fetal development. This variant is categorized as pathogenic in clinical databases, indicating that it is known to cause or contribute to specific health conditions when inherited in a certain pattern.
The Role of the AMH Gene
The AMH gene encodes the anti-Müllerian hormone, a protein essential for typical male sexual development. During early fetal development, all embryos possess Müllerian ducts, which have the potential to develop into female reproductive organs like the uterus and fallopian tubes. In a typical male embryo, the testes produce anti-Müllerian hormone, which signals these ducts to regress or disappear. When the AMH gene is mutated, this signaling process fails. Consequently, the Müllerian ducts do not regress as they should, leading to the development of female reproductive structures in an individual who is otherwise genetically male (46,XY). This protein also plays roles in adult reproductive health, including the regulation of Leydig cell function in males and follicular development in females.
Research and Clinical Associations
Research consistently associates mutations in the AMH gene, including those like rs121913347, with Persistent Müllerian Duct Syndrome (PMDS). PMDS is a rare disorder of sex development. The evidence linking AMH mutations to this condition is considered strong, as the hormone's role in duct regression is well-established in developmental biology. Clinical studies have documented that individuals with PMDS often remain undiagnosed until later in life, sometimes discovered during surgery for unrelated issues like inguinal hernias or undescended testes. Because PMDS is inherited in an autosomal recessive pattern, an individual must typically inherit two copies of a pathogenic variant—one from each parent—to manifest the condition. The clinical impact is specific to the disruption of the hormone's signaling pathway during the critical window of fetal development.
Population Frequency and Prevalence
The rs121913347 variant is extremely rare in the general population. Because it is a pathogenic variant associated with a specific, rare developmental condition, it is not commonly found in large-scale genomic databases used to track common genetic variation. Its presence is primarily documented in clinical settings where individuals are being evaluated for disorders of sex development. Due to its rarity, there is no significant data regarding its frequency across different ancestral groups. Most information regarding this variant comes from case reports and clinical genetic testing registries rather than population-wide screening. This lack of widespread prevalence data is typical for rare, recessive, and highly penetrant genetic conditions that are not subject to routine population-level genetic screening.
Navigating Genetic Information
Understanding a variant like rs121913347 requires careful interpretation within a clinical context. If you or a family member have received information about this variant, it is important to understand that this is not a diagnosis in itself. Genetic variants are only one piece of a complex biological puzzle. You cannot use this information to self-diagnose or make medical decisions. If you are concerned about reproductive health or developmental conditions, the most appropriate step is to consult with a board-certified genetic counselor or a specialist, such as a reproductive endocrinologist or a urologist. These professionals can provide context based on your personal and family medical history, explain the implications of the variant, and discuss appropriate clinical follow-up or testing if necessary.
How common is this variant?
The rs121913347 variant is extremely rare in the general population and is primarily identified in clinical settings related to disorders of sex development.
Frequently asked questions
What is Persistent Müllerian Duct Syndrome?
Persistent Müllerian Duct Syndrome (PMDS) is a rare condition where males with 46,XY chromosomes have female reproductive organs, such as a uterus and fallopian tubes, because the anti-Müllerian hormone failed to signal their regression during development.
Is rs121913347 inherited?
Yes, this variant is inherited in an autosomal recessive pattern. This means an individual typically needs to inherit one copy of the variant from each parent to be affected by the condition.
Can I be tested for this variant?
Yes, genetic testing for specific variants in the AMH gene is available through clinical laboratories. You should discuss the necessity and implications of such testing with a healthcare provider or a genetic counselor.
Does having this variant mean I am infertile?
PMDS can be associated with fertility challenges, but the impact varies by individual. It is important to consult with a reproductive specialist to understand how this condition might affect your specific health and fertility.
Sources & further reading
Educational information only, last refreshed 9/23/2026. 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.
Missense mutation in anti-Müllerian hormone resulting in impaired AMH signaling and persistent Müllerian duct syndrome type 1.