The DHX37 gene helps your cells make ribosomes, the tiny structures that build proteins needed for growth and normal body function. If this gene does not work as expected, early sex development can be affected, especially in some people with a 46,XY chromosome pattern, and this may lead to differences in testis development or reduced fertility. Many variants are harmless, while a few may change how the gene supports these early developmental steps.
What is a gene?
Genes are segments of DNA that carry information your cells use to make molecules or regulate processes in the body. Some genes provide the instructions for producing proteins, the parts of cells that do the work. Others mainly control when certain processes occur, where they occur, and how strongly they operate. Together, genes influence how the body develops and functions, and they can shape how you respond to food, stress, and medications. To explore this topic in more depth, you can learn more in the LearnHub.
Overview
DHX37Gene function
What if the gene works
The DHX37 gene helps cells make ribosomes, the structures that build proteins. Its protein unwinds RNA and supports early ribosome assembly, which helps growing tissues and developing reproductive organs function normally.
Risk
What if the gene does not work
Variants in the DHX37 gene are linked to differences in testicular development in people with 46,XY chromosomes, from undescended testes to partial or complete gonadal dysgenesis. Mild or severe variants can affect the features seen and how marked they are.
Treatment
What does that mean for your treatment
For the DHX37 gene, no gene-specific treatment or management approach is currently established, so care is guided by the person’s symptoms and clinical findings rather than by a DHX37-directed medicine.
Conditions associated with DHX37
Gene function
What if the gene works
Every day, your cells need the DHX37 gene to help manage RNA and build ribosomes, the structures that make proteins. This work is especially important in the cell’s nucleus, where early ribosome assembly begins. Understanding what the DHX37 gene does in your cells helps explain how basic cell upkeep stays on track.
Inside the nucleus, the DHX37 gene helps reshape RNA so it can be processed and used correctly. It uses cell energy to move RNA and proteins into the right working arrangement.
One of its main jobs is to help build the smaller part of ribosomes, the cell structures that make proteins. It supports early processing of ribosomal RNA, the RNA core that ribosomes are made from.
By helping ribosomes mature, the DHX37 gene supports steady protein production in many tissues. This helps cells carry out routine tasks such as growth, repair, and everyday maintenance.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and help explain normal differences among people, such as appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and are simply part of natural genetic variation. In some situations, though, a variant changes how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Many DHX37 gene variants are missense changes in key helicase regions that can weaken ATP use, RNA binding, or protein stability. This is how DHX37 gene variants affect protein function: ribosome assembly may become less efficient, which can disturb cells involved in early testis development. Milder variants may leave some activity, while more severe variants can cause greater loss of function and are often linked to earlier or more marked 46,XY gonadal dysgenesis.
How variants are linked to conditions
Pathogenic variants in the DHX37 gene are a recognized cause of some 46,XY differences of sex development, including complete or partial gonadal dysgenesis and testicular regression syndrome. This means DHX37 gene variants linked to 46,XY differences of sex development can be found in people with atypical testicular development, atypical genital development, or both. Features can vary from one person to another, even within the same family.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are common across the general population. Most do not directly affect health and instead reflect natural human diversity. For many genes, carrying a variant associated with a condition points to a possible link rather than a definite diagnosis, especially when multiple genes and environmental factors also play a role. In some cases, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There isn't yet broadly confirmed evidence on specific factors that increase or reduce risk related to the DHX37 gene. Changes in this gene are mainly linked to differences in sex development, and the effects can vary from one family or individual to another, so personal risk is best discussed with a doctor or genetic counselor.
Inheritance of DHX37 variants
For families asking how DHX37 gene variants are inherited, the best-established pattern is autosomal dominant for DHX37-related 46,XY gonadal development conditions. This means one altered copy of the DHX37 gene can be enough to be passed from either parent, and each child has a 50% chance of inheriting that variant. Some cases happen because of a new (de novo) variant that was not inherited from either parent. Even when the variant is inherited, its effects are usually limited to people with 46,XY development, so a parent may carry the variant with little or no related sign themselves.
What does my DHX37 result mean for my family?
For DHX37, family meaning depends on the condition linked to the result. Changes in this gene are most often tied to a condition affecting testis development in people with XY chromosomes, and these results are usually passed in a dominant way, so close relatives can sometimes carry the same change. Some cases happen for the first time in one person, so a parent may not have it.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the DHX37 gene, doctors use genetic testing on blood or saliva. DHX37 genetic testing reads the gene's DNA sequence to look for changes. Results show whether a variant was found and whether it is known to be linked to a health condition.
When should I consider getting a genetic test?
Genetic testing for the DHX37 gene may be considered when a baby or child has differences in sex development, such as testes that did not form or work as expected, especially in families with similar findings. It can also help explain some cases of delayed or absent puberty linked to poor testicular development.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it explains varies by the condition and the type of variant involved. As time passes, many factors, including lifestyle, environment, age, and medical history, affect how the body works. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is most useful when viewed alongside other parts of care. In other situations, a genetic result may offer a clear answer. In areas such as medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body handles medicines, so the same drug may work a little differently from one person to another. Some people break down a medicine faster or slower, while others may be more or less sensitive to its effects. This kind of difference is common and can influence how well a treatment works or the chance of side effects.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes affect a person’s response to medications. It studies connections between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes influence how strongly a drug works or how the body handles it. This information can support more informed and more individualized treatment decisions. You can read more about this topic in the LearnHub.
Drugs influenced by the DHX37 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting medication response, so questions about medicines, side effects, or changes in your health are best discussed with your doctor or pharmacist.