AMHR2 rs72552768: Understanding Persistent Müllerian Duct Syndrome
The rs72552768 variant is a rare genetic alteration located within the AMHR2 gene. It is associated with Persistent Müllerian Duct Syndrome (PMDS), a condition affecting male sexual development.
What each genotype means
Typical AMHR2 function
You carry two reference copies of the AMHR2 gene and do not carry this specific altered allele. Studies indicate that your anti-Müllerian hormone receptor signaling is expected to function typically without elevated risk for persistent Müllerian duct syndrome attributed to this variant. This is the common genotype found across all major human populations.
Carried by virtually all individuals globally (>99.9% across all ancestries in gnomAD).
Carrier of rare variant
You carry one copy of the rare AMHR2 variant linked to persistent Müllerian duct syndrome (PMDS type 2). Because PMDS is inherited in an autosomal recessive manner, single-copy carriers typically do not show symptoms but can pass the altered allele to biological offspring. Reproductive implications generally only arise if a partner is also a carrier of a pathogenic AMHR2 variant.
Extremely rare across all populations, occurring in fewer than 1 in 10,000 individuals globally.
Increased risk for PMDS
You carry two copies of the rare AMHR2 variant, a pattern clinically associated with persistent Müllerian duct syndrome (PMDS type 2) in chromosomal males. Research shows that having two defective copies impairs anti-Müllerian hormone receptor activity, which can lead to the retention of Müllerian structures such as a uterus or fallopian tubes alongside typical male reproductive organs. Anyone with this genotype is encouraged to discuss their personal or family history with a medical geneticist.
Extremely rare worldwide, with an estimated prevalence well below 1 in 1,000,000 individuals.
What is the rs72552768 Variant?
The rs72552768 variant is a specific change in the DNA sequence of the AMHR2 gene. In genetics, a variant like this represents a difference in the nucleotide sequence compared to the most common form found in the general population. This particular variant is categorized as a pathogenic marker in clinical databases, meaning it has been identified in individuals diagnosed with specific health conditions. Because it is a rare variant, it is not typically found in the general population, and its presence is usually investigated in the context of clinical diagnostic testing for disorders of sexual development. Understanding such variants requires looking at how they alter the instructions for building proteins within the body.
The Role of the AMHR2 Gene
The AMHR2 gene provides the essential blueprint for creating the anti-Müllerian hormone receptor type 2. This receptor is a critical component of the male reproductive development process. During typical fetal development, the anti-Müllerian hormone (AMH) binds to this receptor to signal the regression of the Müllerian ducts—structures that would otherwise develop into female reproductive organs like the uterus and fallopian tubes. When the AMHR2 gene functions correctly, these ducts break down in males. If the gene is altered, the receptor may not function properly, preventing the necessary signal for duct regression. This can lead to the retention of these structures in individuals who are otherwise phenotypically male.
Research and Clinical Associations
Research links variants in the AMHR2 gene to Persistent Müllerian Duct Syndrome (PMDS) type 2. PMDS is a rare disorder of sexual development where individuals with a 46,XY chromosomal makeup retain Müllerian duct derivatives. Scientific literature indicates that approximately 88% of PMDS cases are caused by mutations in either the AMH or AMHR2 genes. While many variants have been identified, the evidence for specific variants like rs72552768 is often derived from clinical case studies of affected individuals. It is important to note that the evidence strength for many individual rare variants remains limited, and clinical diagnosis is typically based on a combination of genetic testing, hormone level analysis, and physical examination by specialists.
Population Frequency
The rs72552768 variant is classified as very rare globally. According to large-scale genomic databases like gnomAD, the minor allele frequency (MAF) is reported to be less than 0.0001. This extreme rarity means that the variant is not a common feature of human genetic diversity and is almost exclusively identified in clinical settings where patients present with symptoms of PMDS. Because the condition follows an autosomal recessive inheritance pattern, individuals typically need to inherit two copies of a pathogenic variant—one from each parent—to manifest the clinical features of the syndrome. Due to its low frequency, the variant is not routinely screened for in the general population.
Navigating Genetic Information
Genetic information regarding rare variants can be complex and should always be interpreted by a qualified healthcare professional, such as a genetic counselor or a medical geneticist. If you or a family member have received a report mentioning this variant, it is essential to discuss the findings with a clinician who can provide context based on your specific medical history and clinical presentation. Genetic testing results are not a substitute for a formal medical diagnosis. You should never make changes to your health management or medical care based solely on a genetic report without consulting your doctor. A specialist can help determine if the variant is relevant to your health and what, if any, follow-up steps are appropriate.
How common is this variant?
The rs72552768 variant is very rare globally, with a minor allele frequency (MAF) of less than 0.0001 in gnomAD.
Frequently asked questions
What is Persistent Müllerian Duct Syndrome?
Persistent Müllerian Duct Syndrome (PMDS) is a rare condition where males with 46,XY chromosomes retain female reproductive structures like a uterus or fallopian tubes. It is caused by defects in the AMH or AMHR2 genes.
Is rs72552768 a cause of infertility?
Variants in AMHR2 can be associated with reproductive health issues. You should discuss any concerns regarding fertility or reproductive development with a reproductive endocrinologist or genetic specialist.
How is PMDS diagnosed?
Diagnosis typically involves a physical examination, imaging to identify internal structures, hormone level testing, and genetic sequencing of the AMH and AMHR2 genes. A clinical diagnosis is made by a medical professional.
Can I be a carrier of this variant?
Yes, if you have one copy of a pathogenic variant, you are considered a carrier. Carriers of autosomal recessive conditions usually do not exhibit symptoms of the disorder.
Sources & further reading
Educational information only, last refreshed 10/28/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Promoter polymorphism (-482 A>G) in the AMH receptor type II gene associated with altered follicular responsiveness to gonadotropins during controlled ovarian stimulation.
Receptor inactivating variant causing persistent Müllerian duct syndrome with bilateral cryptorchidism and inguinal hernias.
Pathogenic loss-of-function variant in AMHR2 associated with persistent Müllerian duct syndrome in genetic males.