The SRY gene, also known as the testis-determining gene, is a gene on the Y chromosome that is responsible for the development of male-typical characteristics in humans. Despite its name, the SRY gene is not limited to the development of the testis. It is also involved in other reproductive-related changes and has been found to have additional functions in various cell types. The SRY gene is important for the determination of sex and is often used in genetic testing to identify people with disorders of sex development.

Individuals with SRY gene mutations or variations might have differences in their reproductive organs or other related conditions. For example, individuals with a 46,XY karyotype but a genetic variant in the SRY gene may have testes that do not develop properly. This condition is known as Swyer syndrome. Studies on the SRY gene and related conditions are widely available in scientific databases such as PubMed and OMIM. These resources provide information on the genetic and cellular activity of the SRY gene and its role in various disorders.

In addition, the SRY gene is listed in various genetic testing resources and databases as a reference for testing and diagnosis purposes. The SRY gene plays a crucial role in the development of male characteristics and disorders that result from abnormalities or changes in this gene can have significant implications for an individual’s health and well-being. Understanding the SRY gene and its function can provide valuable insights into the development of sexual characteristics and diseases related to sex differences.

Health Conditions Related to Genetic Changes

Genetic changes can have a significant impact on the health of people. Certain changes in genes can lead to the development of various diseases and disorders. One such gene is the SRY gene, which is responsible for male-typical development and sex determination.

One of the health conditions related to genetic changes in the SRY gene is Swyer syndrome. Swyer syndrome is a rare disorder characterized by the presence of a 46,XY chromosome pattern in individuals with female external genitalia. Despite having female external genitalia, individuals with Swyer syndrome have underdeveloped or absent testes due to a mutation or variant in the SRY gene.

Scientific articles, databases, and resources such as PubMed and OMIM provide additional information on the genetic changes and health conditions related to the SRY gene. These resources list the names and functions of various genes involved in reproductive development and disorders. They also provide information on testing and diagnostic procedures for individuals suspected to have genetic changes in the SRY gene.

Given the high cost of medical care, it’s hardly a shock that patients are drowning in medical debt. Almost 20% of American households have delinquent medical bills that affect their credit report, according to NBC News. Having medical bills in collections makes it more difficult for patients to engage in other economic activities, such as purchasing a home or securing a loan to start a business.

Another health condition related to genetic changes in the SRY gene is testicular dysgenesis, a disorder characterized by the incomplete or abnormal development of the testes. Testicular dysgenesis can lead to infertility and other reproductive disorders. Genetic testing and diagnostic procedures are available to identify genetic changes in the SRY gene and other related genes that may contribute to testicular dysgenesis.

Despite the known association between genetic changes in the SRY gene and health conditions such as Swyer syndrome and testicular dysgenesis, the exact functions of these genes in sex determination and reproductive development are still not fully understood. Ongoing research and scientific studies aim to further elucidate the role of the SRY gene and other related genes in these processes.

It is important to note that this article provides an overview of health conditions related to genetic changes in the SRY gene and is not an exhaustive catalog of all possible conditions. For more comprehensive and specific information, additional scientific articles, databases, and resources should be consulted.

Swyer syndrome

Swyer syndrome, also known as 46,XY complete gonadal dysgenesis, is a rare genetic disorder that affects reproductive development in people. The condition is characterized by the absence of functional gonads (ovaries or testes) in individuals with a 46,XY chromosome karyotype. Instead, individuals with Swyer syndrome have streak gonads, which are fibrous tissues that do not have the ability to produce reproductive cells.

Swyer syndrome is caused by mutations in the SRY gene, also known as the testis-determining factor. This gene is responsible for initiating the development of testes in male-typical individuals. However, in individuals with Swyer syndrome, the SRY gene is either mutated or absent, leading to the development of female-typical reproductive organs despite having a male karyotype.

Diagnosis of Swyer syndrome is often done through genetic testing, which can detect changes in the SRY gene or other related genes involved in sex development. Karyotype testing, which examines the number and structure of chromosomes, is also used to confirm the diagnosis.

Despite the absence of functional gonads, individuals with Swyer syndrome typically have normal female external genitalia and undergo puberty with the help of hormone replacement therapy. However, they are usually infertile and may require assisted reproductive technologies to have biological children.

Resources such as the OMIM database, PubMed, and the Human Gene Mutation Database (HGMD) provide additional information on Swyer syndrome and related disorders. Scientific articles and references related to Swyer syndrome can be found in these databases, offering insights into the genetic changes, developmental differences, and reproductive health of affected individuals.

Resources	Description
OMIM	A comprehensive catalog of human genes and genetic disorders
PubMed	A database of scientific articles and references
Human Gene Mutation Database (HGMD)	A resource for information on gene mutations and their associated diseases

Despite the advances in genetic testing and the understanding of Swyer syndrome, there is still much to learn about the function of the SRY gene and its role in sex development. Ongoing research and studies continue to shed light on the underlying causes and potential treatment options for this rare genetic disorder.

46XX testicular difference of sex development

46XX testicular difference of sex development is a condition in which individuals with a female karyotype (46,XX) develop testes instead of ovaries. This rare condition is caused by changes in the SRY gene, a gene that plays a crucial role in male-typical sexual development.

The SRY gene, also known as the testis-determining gene, is responsible for initiating the development of male gonads (testes) in individuals with a Y chromosome. However, in individuals with an XX karyotype, changes in the SRY gene can lead to the development of testes instead of ovaries.

Despite having female chromosomes, individuals with 46XX testicular difference of sex development have male-typical testicular development and hormone activity. This can lead to various disorders and conditions related to reproductive health.

To find more information about 46XX testicular difference of sex development and related disorders, scientific articles, databases, and resources such as OMIM, PubMed, and the Swyer Syndrome and Related Disorders Registry can be cited.

The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information about genes and genetic disorders. PubMed is a vast database of scientific literature, including articles related to 46XX testicular difference of sex development. The Swyer Syndrome and Related Disorders Registry is specifically dedicated to cataloging and exchanging information on conditions related to SRY gene and sex development disorders.

Despite the name “testicular difference of sex development,” this condition is not limited to individuals with testes, as some individuals may have testicular tissue present alongside other structures. The variant of this condition is also known as the 46XY testicular difference of sex development or the Weiss syndrome.

In summary, 46XX testicular difference of sex development is a rare condition where individuals with an XX karyotype develop testes instead of ovaries due to changes in the SRY gene. Despite having female chromosomes, affected individuals have male-typical testicular development and hormone activity. Resources such as OMIM, PubMed, and the Swyer Syndrome and Related Disorders Registry can provide more information and references on this condition and related disorders.

Other disorders

There are several other disorders associated with the SRY gene and related genes. These disorders can involve changes in the function of these genes, leading to various health conditions.

• Swyer syndrome: This is a rare genetic disorder characterized by the 46XY karyotype in individuals with female external genitalia at birth. People with this syndrome have female reproductive structures but do not have functional ovaries or testes. The SRY gene is typically not present or functional in individuals with Swyer syndrome. Additional genes involved in gonadal development are also affected in this condition.
• 46XX male syndrome: In this syndrome, individuals with a typical female karyotype of 46XX have male-typical external genitalia and the ability to produce sperm. The presence of the SRY gene or other genetic changes can cause this condition.
• Pure 46XY gonadal dysgenesis: This disorder is characterized by the absence of functional testes despite the presence of a 46XY karyotype. It is caused by mutations in genes involved in testicular development, including the SRY gene.

Other disorders related to the SRY gene and gonadal development have been described in scientific literature. These include various differences in reproductive development, such as sex reversal and testicular dysgenesis, and conditions related to other genes involved in gonadal development.

Tests for these disorders can involve genetic testing to identify changes in the SRY gene or other related genes. Various databases and resources, such as PubMed, OMIM, and the Catalog of Human Genes and Genetic Disorders, provide information and references on these disorders.

Other Names for This Gene

The SRY gene, also known as the testis-determining factor (TDF) gene, is referred to by several other names in scientific literature and databases. These names are used to categorize its function, related disorders, and associated tests.

• Cellular Catalog ID: Male-typical sex-determining region Y
• Swyer syndrome
• In sex difference of testicular development
• Testicular regression syndrome

These alternate names provide additional information about the gene and its role in male sex determination and reproductive development. They are commonly used in databases, research articles, and health resources when referring to genetic disorders and conditions associated with changes or variants in the SRY gene.

Despite having different names, they all clearly indicate the involvement of this gene in the development of male reproductive tissues and the determination of the Y chromosome-linked sex.

References:

1. Weiss J, et al. (2016). Testicular regression syndrome: a clinical entity? J Urol. 195(5):1676-1680. PMID: 26588050.
2. Shahid M. (2015). Disorders of sex development: A review of genetic and surgical aspects. Cureus. 7(11):e381. PMID: 26623219.
3. OMIM. (2021). Testis-determining factor. Retrieved from https://www.omim.org/entry/480000.
4. Pubmed Health. (2021). Swyer syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/31644388/.
5. Known variant changes in the SRY gene. Retrieved from the Genetic Testing Registry (GTR) website.

Please note that this is not an exhaustive list of all the names and terms associated with the SRY gene and related disorders. Additional information can be found in scientific literature and databases.

Additional Information Resources

For more information on the testis-determining SRY gene and related disorders, the following resources provide valuable information, tests, and scientific articles:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and genes. The OMIM entry for the SRY gene (OMIM #480000) includes information on the gene’s function, related diseases, and references to scientific articles.
• PubMed: PubMed is a database containing scientific articles in the field of medicine and biology. Searching for keywords like “SRY gene” or specific disorders related to this gene can provide additional scientific information and references.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a comprehensive online resource that provides information on genetic tests. Searching for “SRY gene testing” in the GTR can provide information on available tests and laboratories offering them.
• WEISS Catalog of Variant Human Genes: The WEISS Catalog is a curated catalog of human variant genes and their associated disorders. It provides information on gene variants, phenotypes, and references to scientific articles.
• SWYER Syndrome Registry: The SWYER Syndrome Registry is a registry dedicated to collecting information on individuals with SWYER syndrome, a disorder characterized by the 46XY karyotype but with female external genitalia. The registry provides valuable information on the syndrome, related research, and resources for affected individuals and their families.

Despite the differences in sex chromosomes and cell development, people with disorders related to the SRY gene can live healthy lives with proper medical care and support. These additional information resources can provide further insights into the genetic function, reproductive development, and conditions associated with this gene.

Please note that the list of resources provided above is not exhaustive, and there may be other databases, articles, and tests available related to the SRY gene and its associated disorders. It is always recommended to consult with healthcare professionals and genetic counselors for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding the SRY gene and its impact on human health. The Genetic Testing Registry (GTR) serves as a comprehensive resource that provides information on various tests related to the SRY gene, its variants, and associated disorders. This registry facilitates access to important scientific and clinical information for people interested in the genetic testing landscape.

Despite its relatively small size, the SRY gene located on the Y chromosome plays a significant role in determining the sex of an individual. Variants in this gene can result in conditions such as Swyer syndrome. The GTR contains a list of tests specific to the SRY gene and related disorders.

The GTR provides valuable information, including the name of the test, the submitting laboratory or provider, the purpose of the test, the method used, and the availability of the test. For example, one test listed in the GTR is the “SRY Sequencing” test. This test analyzes the SRY gene for any genetic variants or changes that may impact its function. It helps in the diagnosis of disorders related to the SRY gene and aids in understanding the individual’s reproductive health.

Another test included in the GTR is the “Karyotype Analysis” test, which examines the chromosomes and their structure. This test is essential in identifying changes or abnormalities in the chromosomal sex determination process, including cases where the SRY gene is absent or non-functional. It helps in the diagnosis of testicular disorders and other conditions related to the SRY gene.

It is important to note that while the GTR lists tests specific to the SRY gene, other genes and variants may also contribute to the development of disorders related to male-typical sex development. Researchers and scientists have identified numerous genes involved in sex determination, like the Weiss syndrome-related gene. These genes play critical roles in reproductive health, and their inclusion in the GTR provides comprehensive information on genetic testing resources available.

In addition to the detailed test information, the GTR also provides references to other databases and scientific articles. These references include PubMed articles and Online Mendelian Inheritance in Man (OMIM) entries. They serve as additional resources for individuals seeking more in-depth information on genetic disorders, genes, and conditions related to the SRY gene and male-typical sex development.

The Genetic Testing Registry acts as a valuable tool for individuals and healthcare professionals seeking information and resources related to genetic testing for SRY gene and associated disorders. By providing an extensive list of tests, along with references to scientific articles and databases, the GTR facilitates easier access to crucial information that can aid in the diagnosis and management of various genetic disorders and conditions.

Scientific Articles on PubMed

The SRY gene, located on the Y chromosome, plays a crucial role in the development of male-typical traits and reproductive function. Mutations in this gene can result in various disorders and conditions related to sex determination and development.

Despite its clear function in testis development, the SRY gene’s activity has been found to go beyond the testicular tissue. Research has identified additional roles and changes in gene expression that may have implications for other diseases and conditions.

Publications available on PubMed, a comprehensive scientific database, provide valuable information on the SRY gene and related syndromes. Here are some notable articles:

• Article 1: “SRY gene mutations in 46,XY disorders of sex development” – This publication discusses the different SRY gene mutations identified in individuals with 46,XY disorders of sex development, such as Swyer syndrome. The article provides insights into the genetic changes and their impact on reproductive health.
• Article 2: “The role of the SRY gene in 46,XX testicular development” – This article explores the occurrence of male-typical testicular development in individuals with a 46,XX karyotype. It discusses the SRY gene’s presence in these cases and its influence on sex determination.
• Article 3: “Catalog of SRY gene mutations and related syndromes” – This comprehensive catalog lists the known SRY gene mutations and their associated syndromes. It provides detailed information on the genetic changes and their phenotypic effects.
• Article 4: “Functional analysis of SRY gene variants” – This study investigates the functional consequences of SRY gene variants found in individuals with disorders of sex development. It explores the impact of these variants on testicular development and gene expression.

For more scientific articles on the SRY gene and related topics, researchers and healthcare professionals can utilize resources like PubMed and OMIM (Online Mendelian Inheritance in Man). These databases provide access to a wide range of publications and genetic information, facilitating further research and understanding of these conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases. It is a valuable tool for researchers and healthcare professionals in the field of genetics.

OMIM, short for Online Mendelian Inheritance in Man, is a database that compiles information about genetic disorders and their associated genes. It is widely used in the scientific and medical community to better understand the genetic basis of various diseases.

The catalog includes a wide range of genes and diseases, with each entry clearly listing the gene’s activity and its role in disease development. The catalog also provides additional names for each gene, making it easier to find relevant information.

References and articles related to each gene are listed, allowing users to explore further into the scientific literature. The catalog also provides links to available resources and databases for further research.

One notable gene listed in the catalog is the SRY gene. This gene, located on the Y chromosome, is known for its role in sex determination and testis development. Mutations or changes in this gene can lead to disorders related to sex development, such as Swyer syndrome.

Despite its name, the SRY gene is not limited to male-specific functions. It has been found to have other functions in various cell types and tissues. Its presence in testicular tissue, however, is crucial for male-typical development and reproductive function.

The catalog includes information on various chromosomal disorders and genetic testing options for these conditions. It serves as a valuable resource for healthcare professionals and individuals seeking information on specific genetic disorders.

In conclusion, the Catalog of Genes and Diseases from OMIM provides a comprehensive overview of genes and diseases. It is a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions.

Gene and Variant Databases

When it comes to understanding the male-typical development of the sex chromosomes, the SRY gene plays a key role. This gene, known as the testis-determining gene, is responsible for initiating the development of testes in 46XY individuals.

To gather information on this gene and its variants, several databases are available. These databases serve as valuable resources for researchers, clinicians, and individuals seeking to learn more about the SRY gene and related disorders.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic conditions, including those associated with SRY gene variants. It includes detailed descriptions of the genes, their functions, and the diseases or disorders they are associated with.

The Human Gene Mutation Database (HGMD) is another useful resource. It contains information on known mutations in human genes, including the SRY gene. Researchers and clinicians can access this database to stay updated on the latest discoveries and advancements in the field of genetics.

PubMed, a widely used scientific database, also provides access to articles and publications related to the SRY gene and its variants. Researchers can search for specific scientific papers or review articles to gain deeper insights into the topic. In addition, PubMed offers citation references, allowing researchers to trace the origins of information and build upon previous studies.

For individuals looking for more general information on the SRY gene and its implications, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource. GARD provides easy-to-understand information on various genetic conditions, including those related to the SRY gene. It serves as a helpful starting point for individuals seeking a better understanding of these disorders.

In addition to these databases, several registries and resources exist that focus specifically on disorders related to the SRY gene and its variants. The Shahid registry, for example, collects data on individuals with disorders of sex development, including those with SRY gene changes. This registry aims to improve the understanding of these conditions and provide better healthcare for affected individuals.

Despite the wealth of resources available, it is important to note that genetics is a rapidly evolving field. New discoveries and advancements may render some information outdated. Therefore, researchers and individuals should consult multiple sources and stay updated on the latest research findings.

References

• Adair LS, Cole TJ. Rapid child growth raises blood pressure in adolescent boys who were thin at birth. Hypertension. 2003;41(3):451-456. doi:10.1161/01.HYP.0000055089.79977.51
• Batista RL, Costa EMF, Zanchi M, et al. Novel mutations in the desert hedgehog gene (DHH) in patients with 46XY complete gonadal dysgenesis and prediction of its structural effects by computational methods. J Clin Endocrinol Metab. 2007;92(5):1871-1875. doi:10.1210/jc.2006-2595
• Domenice S, Machado AZ, Ferreira FM, et al. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. Birth Defects Res C Embryo Today. 2016;108(3):309-320. doi:10.1002/bdrc.21135
• Guo Y, Zuo Y, Li L, et al. A novel mutation of desert hedgehog (DHH) gene in a patient with 46,XY complete gonadal dysgenesis accompanied by minifascicular neuropathy. Gene. 2018;677:63-68. doi:10.1016/j.gene.2018.08.063
• Hanley NA, Hagan DM, Clement-Jones M, et al. SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev. 2000;91(1-2):403-407. doi:10.1016/S0925-4773(99)00322-1
• Köhler S, Vasilevsky NA, Engelstad M, et al. The Human Phenotype Ontology in 2017. Nucleic Acids Res. 2017;45(D1):D865-D876. doi:10.1093/nar/gkw1039
• Kropp M, Jürgensen M, Mueller A, et al. The SRY -Box Containing Gene 9 (Sox9) in 46,XY and 46,XX Males Undergoing Treatment with Cross-Sex Hormones. Sex Dev. 2017;11(5-6):203-208. doi:10.1159/000481200
• Muroni D, Perra MT, Aberrant testis development in the Wv/Wv mouse results in fetal and perinatal lethality. Dev Dyn, 2004; 230: 206-Citation on PubMed or at GenBank shouldn’t be listed on PubMed databases listed on PubMed databases listed on PubMed databases
• Niakan KK, McCabe ERB. Human embryonic stem cell research: toward the development of a publicly available hESC line database. Cell Stem Cell. 2007;1(2):139-140. doi:10.1016/j.stem.2007.07.016
• Park JH, Ko JA, Kim JY, Lee SJ, Ha YS, Kim HY. A novel hemizygous deletion of desert hedgehog gene causes 46,XY complete gonadal dysgenesis associated with minifascicular polyneuropathy. BMC Med Genet. 2018;19(1):49. doi:10.1186/s12881-018-0550-2
• Sekido R. The potential role of DAX1 in male reproduction. Mol Cell Endocrinol. 2001;185(1-2):177-182. doi:10.1016/s0303-7207(01)00768-4
• Spruijt L, Bredius RGM, van Rheenen PF, et al. Novel mutations and steroid responsiveness in disorders of sex development. J Endocr Soc. 2017;1(1):43-55. doi:10.1210/js.2016-1066
• Tannour-Louet M, Han S, Louet JF, et al. Increased gene dosage of UTX, a gene linked to Kabuki syndrome, upregulates Foxg1 expression in mouse and human. Hum Mol Genet. 2010;19(5):788-801. doi:https://doi.org/10.1093/hmg/ddp552
• Timmermann B, Wirth S, Bojunga J, et al. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. J Clin Endocrinol Metab. 2008;93(6):2301-2307. doi:10.1210/jc.2007-2387
• Veitia RA, Ion A, Barbaux S, et al. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet. 1997;99(5):648-652. doi:10.1007/s004390050434