The LHCGR gene provides instructions for making a protein called luteinizing hormone/choriogonadotropin receptor (LHCGR). This receptor is found on the surface of cells in the testes and ovaries, where it helps coordinate the production and release of sex hormones. The LHCGR gene is involved in several genetic disorders and conditions related to sex hormone function.

Mutations in the LHCGR gene can lead to male-limited precocious puberty, a condition in which boys begin puberty at an abnormally young age. These mutations can also cause Leydig cell hypoplasia, a disorder that affects the development of the testes and disrupts the production of male sex hormones. In females, mutations in the LHCGR gene can cause polycystic ovary syndrome, a hormonal disorder that affects the ovaries and often leads to infertility.

Scientists have identified several different mutations in the LHCGR gene that are associated with these disorders. Some mutations change a single protein building block (amino acid) in the LHCGR protein, while others delete or add genetic material. These changes disrupt the normal function of the receptor, preventing it from properly responding to the hormones that regulate sex hormone production.

Information about specific LHCGR gene mutations and associated disorders is available in various genetic databases, including the Online Mendelian Inheritance in Man (OMIM) catalog. Additional information can be found in scientific articles and references listed in resources such as PubMed. Genetic testing can be used to identify mutations in the LHCGR gene and help diagnose related disorders.

Health Conditions Related to Genetic Changes

Changes in the LHCGR gene can lead to various health conditions, particularly those related to male-limited disorders. The LHCGR gene, also known as the luteinizing hormone/chorionic gonadotropin receptor gene, plays a crucial role in the production and regulation of hormones involved in puberty and reproductive processes.

Genetic mutations or variations in the LHCGR gene can result in different disorders and diseases. One such condition is familial male-limited precocious puberty, which causes the early onset of puberty in males. It is characterized by the premature development of secondary sexual characteristics and the activation of Leydig cells in the testes.

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Another health condition associated with genetic changes in the LHCGR gene is Leydig cell hypoplasia. This disorder affects the development of Leydig cells, which are responsible for producing testosterone in males. The reduced functionality of these cells can lead to hormonal imbalances and various reproductive issues.

Polycystic ovary syndrome (PCOS) is another disorder that can be influenced by genetic variations in the LHCGR gene. PCOS is characterized by hormonal imbalances, menstrual irregularities, and the formation of ovarian cysts. Changes in the LHCGR gene can affect the responsiveness of ovaries to certain hormones and contribute to the development of PCOS.

Testing for genetic changes in the LHCGR gene can provide valuable information for diagnosing and managing these health conditions. Scientific resources such as PubMed, OMIM, and other genetic databases list articles, references, and additional information on disorders related to the LHCGR gene.

In summary, the LHCGR gene and its genetic changes are associated with various health conditions, including male-limited disorders, Leydig cell hypoplasia, and polycystic ovary syndrome. Understanding these genetic variations and their impact on hormone production and regulation can help in the diagnosis, treatment, and management of these conditions.

Familial male-limited precocious puberty

Familial male-limited precocious puberty is a condition characterized by the early onset of puberty in boys. It is a rare genetic disorder caused by mutations in the LHCGR gene, which encodes the luteinizing hormone/chorionic gonadotropin receptor (LHCGR).

In normal puberty, the LHCGR gene helps regulate the production of hormones that stimulate the testes to produce testosterone. However, in individuals with familial male-limited precocious puberty, a specific mutation in the LHCGR gene leads to the receptor being abnormally activated, causing early and excessive production of testosterone.

Boys with familial male-limited precocious puberty typically experience the development of secondary sexual characteristics at a young age, such as the growth of pubic hair, enlargement of the testes, and deepening of the voice. They may also have accelerated linear growth and advanced bone age.

The diagnosis of familial male-limited precocious puberty is based on clinical findings and genetic testing. Testing for the LHCGR gene mutation can be done through targeted gene sequencing or other genetic tests.

Treatment options for familial male-limited precocious puberty include gonadotropin-releasing hormone (GnRH) analogs, which suppress the production of sex hormones. This can help delay the onset of puberty and slow the progression of secondary sexual characteristics.

It is important for individuals with familial male-limited precocious puberty and their families to seek appropriate medical care and support. Resources such as genetic testing, health information, and support groups can be found from organizations like the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD).

Leydig cell hypoplasia

Leydig cell hypoplasia is a disorder that affects the development and function of the Leydig cells in the testes. These cells are responsible for producing testosterone, the male sex hormone. Without proper functioning Leydig cells, individuals may experience a range of health issues, including delayed or incomplete puberty and infertility.

Leydig cell hypoplasia can be caused by various genetic mutations in the LHCGR gene. The LHCGR gene provides instructions for making the luteinizing hormone/choriogonadotropin receptor (LHCGR), a protein that is essential for the proper development and functioning of Leydig cells.

There are different variants of Leydig cell hypoplasia, including the familial male-limited precocious puberty syndrome. This variant, as well as other variants, can be identified through genetic testing.

References to Leydig cell hypoplasia and related disorders can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man). These sources provide information on the genetics, symptoms, and treatment options for Leydig cell hypoplasia and related conditions.

Common symptoms of Leydig cell hypoplasia include underdeveloped testes, reduced facial and body hair growth, small or undescended testes, and infertility. In some cases, individuals with Leydig cell hypoplasia may also have related conditions such as polycystic ovary syndrome or changes in hormone levels.

Treatment options for Leydig cell hypoplasia vary depending on the specific variant and associated symptoms. Hormone replacement therapy may be used to help stimulate testosterone production and promote the development of secondary sexual characteristics.

In summary, Leydig cell hypoplasia is a disorder that affects the development and function of Leydig cells in the testes. It can be caused by genetic mutations in the LHCGR gene and is associated with delayed or incomplete puberty, infertility, and other related symptoms. Genetic testing and resources such as OMIM can provide additional information on Leydig cell hypoplasia and related conditions.

Polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is a common hormonal disorder that affects women of reproductive age. It is characterized by the growth of small cysts on the ovaries, and can lead to various symptoms and complications.

PCOS is believed to be caused by a combination of genetic and environmental factors. One gene that has been implicated in the development of PCOS is the LHCGR gene, which codes for the luteinizing hormone receptor.

The luteinizing hormone receptor is a protein that is found on the surface of cells in the ovary. It plays a crucial role in the production and release of hormones that regulate the menstrual cycle and fertility. Mutations in the LHCGR gene can disrupt the normal function of the receptor, leading to hormonal imbalances and the development of PCOS.

PCOS is a complex disorder, and its exact cause is not yet fully understood. However, research has shown that there are several factors that contribute to its development, including hormonal imbalances, insulin resistance, and inflammation.

Signs and symptoms of PCOS can vary widely between individuals, but commonly include irregular or absent menstrual periods, excessive hair growth (hirsutism), acne, and infertility. Women with PCOS may also have an increased risk of developing other conditions, such as type 2 diabetes, obesity, and cardiovascular disease.

Diagnosis of PCOS usually involves a combination of medical history, physical examination, and laboratory tests. Hormone tests can be used to measure levels of hormones such as luteinizing hormone (LH), follicle-stimulating hormone (FSH), and androgens. Imaging tests, such as ultrasound, may also be used to examine the ovaries and detect the presence of cysts.

Treatment for PCOS aims to manage symptoms and reduce the risk of complications. It may involve lifestyle changes, such as losing weight and adopting a healthy diet, as well as medications to regulate the menstrual cycle and control hormone levels.

Although PCOS is a common condition, there is currently no cure. However, with proper management and medical care, most women with PCOS are able to lead normal, healthy lives.

For additional information and resources on PCOS, including scientific articles, genetic databases, and health registries, please refer to the following references:

• OMIM – Online Mendelian Inheritance in Man: a comprehensive catalog of human genes and genetic disorders: https://omim.org
• GeneTests: an online genetic testing and counseling resource: https://www.genetests.org
• The Androgen Excess and PCOS Society: https://www.ae-society.org
• PCOS Foundation: a nonprofit organization dedicated to supporting women with PCOS: https://www.pcosfoundation.org

Other disorders

The LHCGR gene is associated with several other disorders, including male-limited precocious puberty, hypoplasia of the testis, Leydig cell hypoplasia, and polycystic ovary syndrome.

These disorders are characterized by changes in hormone levels and reproductive health. Some of these disorders are genetic in nature and are caused by mutations in the LHCGR gene.

Male-limited precocious puberty is a condition where boys start puberty at an abnormally early age. This condition is caused by mutations in the LHCGR gene, which leads to early activation of the hormone receptor for luteinizing hormone.

Hypoplasia of the testis is a condition where the testicles are smaller than normal. This condition is also caused by mutations in the LHCGR gene, which affects the development of Leydig cells that produce testosterone.

Leydig cell hypoplasia is a genetic disorder that affects the production of testosterone in males. Mutations in the LHCGR gene can result in reduced or absent Leydig cell function, leading to low testosterone levels.

Polycystic ovary syndrome is a disorder that affects women and is characterized by hormonal imbalances and the formation of cysts in the ovaries. The LHCGR gene is involved in the regulation of hormone production in the ovaries, and mutations in this gene can disrupt normal ovary function.

Additional information on these disorders and related conditions can be found in scientific articles and databases such as PubMed, OMIM, and other genetic resources. These resources provide information on the genetic mutations, proteins, ligands, and hormonal changes associated with these disorders.

Testing for mutations in the LHCGR gene can be done through genetic testing and can help in diagnosing these disorders. Genetic counseling and support from medical professionals and patient registries can also be valuable resources for individuals and families affected by these disorders.

References:

• Themmen APN, Huhtaniemi IT. Mutations of Gonadotropins and Gonadotropin Receptors: Elucidating the Physiology and Pathophysiology of Pituitary-Gonadal Function. Endocr Rev. 2000 Oct;21(5):551-583. doi: 10.1210/edrv.21.5.0405. PMID: 11041446.
• Chan YM, et al. Clinical and genetic features of 8 patients with LHCGR mutations. J Clin Endocrinol Metab. 2015 Apr;100(4):E567-74. doi: 10.1210/jc.2014-3563. Epub 2015 Feb 12. PMID: 25675349.

Other Names for This Gene

The LHCGR gene goes by several other names in the scientific literature and databases. Some of these names include:

• Gene Symbol: LHCGR
• Leydig cell-specific glycoprotein hormone receptor
• Luteinizing hormone/choriogonadotropin receptor
• LHCGR disorder
• Male-limited precocious puberty
• Celum testis
• Receptor, luteinizing hormone/choriogonadotropin
• LHR
• Ligands of the luteinizing hormone receptor
• Membrane receptor

These names reflect the different aspects and functions of the LHCGR gene, its related disorders, and the proteins it produces. Additional information about the gene can be found in various genetic databases, scientific articles, and resources, including the OMIM catalog, PubMed, and the Male Reproductive System Phenotype knowledgebase.

Additional Information Resources

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the LHCGR gene and related disorders. OMIM entry includes a summary of the gene, its genetic changes, associated disorders, and references to scientific articles. Visit the OMIM website for more information.
• PubMed: PubMed is a database of scientific articles providing extensive information on the LHCGR gene and its functions. You can find articles related to various aspects of this gene, including its role in male puberty, hormone production, and associated genetic disorders.
• Genetic Testing: Various genetic testing laboratories offer tests for mutations in the LHCGR gene. These tests can help diagnose conditions such as familial male-limited precocious puberty, male hypogonadotropic hypogonadism, and polycystic ovary syndrome. Consult a healthcare professional for more information on available tests and laboratories.
• Genetic Disease Registries: Some countries have genetic disease registries that collect information on individuals with specific genetic conditions. These registries can provide additional resources and support to individuals and families affected by LHCGR gene-related disorders. Contact your local health department or genetic counseling center for more information.
• Scientific Publications: Explore scientific articles on LHCGR gene-related topics in peer-reviewed journals. Look for articles by experts in the field of endocrinology, genetics, and reproductive health. These articles provide detailed information on the gene, its functions, and the impact of genetic changes on health and development.

Tests Listed in the Genetic Testing Registry

The LHCGR gene is associated with several disorders, including male-limited precocious puberty, Leydig cell hypoplasia, and polycystic ovary syndrome. Genetic testing can identify mutations in the LHCGR gene, which are linked to these conditions.

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests. Here are some of the tests listed in the GTR:

• Male-Limited Precocious Puberty – This test detects changes in the LHCGR gene that are associated with early onset of puberty in males. It can help diagnose and manage this condition.
• Leydig Cell Hypoplasia – This test examines the LHCGR gene for mutations that cause underdevelopment of Leydig cells, resulting in abnormal hormone production.
• Polycystic Ovary Syndrome – This test looks for LHCGR gene mutations that contribute to the development of polycystic ovaries and hormonal imbalances in females.

In addition to these specific conditions, genetic testing of the LHCGR gene can also provide information on other related disorders and variants, including familial male-limited precocious puberty and infertility.

The GTR is a valuable resource for genetic testing information. It provides references to scientific articles, databases like PubMed and OMIM, and other resources that offer further details on the LHCGR gene.

By testing for mutations in the LHCGR gene, clinicians can obtain crucial insights into various disorders, their genetic causes, and potential treatment options. This information enables them to provide accurate diagnoses and personalized care for patients.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on the LHCGR gene and related topics. This gene, also known as the luteinizing hormone/chorionic gonadotropin receptor (LHCGR), plays a crucial role in reproductive function and is associated with various disorders.

Studies have shown that mutations in the LHCGR gene can lead to conditions such as Leydig cell hypoplasia, polycystic ovary syndrome, and male-limited precocious puberty. The LHCGR gene encodes a receptor for luteinizing hormone and chorionic gonadotropin, which are important hormones involved in the reproductive system.

By searching PubMed, you can find a catalog of scientific articles related to the LHCGR gene and its ligands. These articles provide valuable information on the genetic changes, cell biology, and conditions associated with LHCGR mutations. If you are interested in learning more about the LHCGR gene and its role in different disorders, PubMed is an excellent resource.

In addition to PubMed, there are other databases such as OMIM (Online Mendelian Inheritance in Man) that provide genetic information about the LHCGR gene and related conditions. OMIM is a comprehensive resource that includes information on the genetic basis of diseases, including those associated with the LHCGR gene.

To find scientific articles on the LHCGR gene in PubMed, you can perform a search using various keywords and gene names. Some of the commonly used keywords and gene names for searching include LHCGR, Leydig cell hypoplasia, polycystic ovary syndrome, male-limited precocious puberty, and hormones.

Once you have obtained a list of relevant articles from PubMed, you can further refine your search by using additional keywords or by looking at the references listed in the articles. This can help you find additional resources and scientific articles related to the LHCGR gene and its associated disorders.

In summary, PubMed is a valuable tool for finding scientific articles on the LHCGR gene and related topics. By searching PubMed, you can access a wealth of information on the genetic basis of reproductive disorders, including conditions such as Leydig cell hypoplasia, polycystic ovary syndrome, and male-limited precocious puberty.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders, including information on the LHCGR gene. The LHCGR gene is responsible for encoding the luteinizing hormone/chorionic gonadotropin receptor, which plays a critical role in male sexual development and function, as well as female reproductive system development.

OMIM provides a wealth of scientific articles and resources related to LHCGR gene and its associated disorders. These disorders include genetic hypoplasia of the Leydig cell, male-limited precocious puberty, and polycystic ovary syndrome, among others. The catalog also lists the names of related genes, ligands, and proteins involved in these conditions.

OMIM contains detailed information on genetic changes and mutations within the LHCGR gene, as well as testing options and recommendations for individuals with suspected or confirmed variants. The catalog also provides references to other scientific databases and articles, such as PubMed, for further reading and research.

This comprehensive catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genes and diseases related to the LHCGR gene. It provides a centralized hub of information on genetic conditions affecting hormone production, puberty development, and reproductive system function in both males and females.

OMIM’s catalog of genes and diseases, including the LHCGR gene, plays a crucial role in advancing scientific understanding and medical management of these conditions. It is an essential tool for genetic testing labs, healthcare organizations, and individuals seeking information on genetic disorders and related health resources.

For more information on the LHCGR gene and related disorders, please refer to the OMIM catalog and its associated resources.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the LHCGR gene and related conditions. These databases catalog information about genetic variants and their associated phenotypes, providing a comprehensive overview of the gene’s role in various diseases and health conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM), which compiles information on human genes and genetic disorders. OMIM provides a comprehensive collection of references, articles, and scientific data related to the LHCGR gene and its associated diseases and syndromes.

Another important resource is the Pubmed database, which contains a vast collection of scientific articles and references. Researchers and clinicians can search for specific keywords, such as “LHCGR gene,” “puberty,” or “precocious puberty” to find relevant articles and studies.

The Genetic Testing Registry (GTR) is a useful resource for information about genetic tests and testing laboratories. It provides information about the availability, purpose, and validity of genetic tests for various disorders related to the LHCGR gene.

Gene and variant databases also include information about other genes and proteins related to the LHCGR gene. For example, genes encoding luteinizing hormone (LH) and follicle-stimulating hormone (FSH) ligands, which are essential for normal pubertal development and reproductive function, are closely associated with the LHCGR gene.

These databases list known variants and mutations in the LHCGR gene, along with their associated phenotypes. For example, variants in the LHCGR gene can cause male-limited precocious puberty or male hypogonadism, characterized by early puberty in boys or delayed or absent puberty, respectively.

Familial male-limited precocious puberty (FMPP), caused by specific variants in the LHCGR gene, is a rare condition characterized by early puberty in young boys, including the development of pubic hair, testicular enlargement, and scrotum changes. These databases provide detailed information about the genetic changes responsible for FMPP and other related disorders.

Gene and variant databases also provide additional information about related health conditions, such as polycystic ovary syndrome (PCOS), which may result from alterations in the LHCGR gene or related signaling pathways. These databases help researchers and clinicians understand the genetic basis of these conditions and develop more effective diagnostic tests and treatments.

In conclusion, gene and variant databases offer valuable resources for researchers and clinicians studying the LHCGR gene and related conditions. These databases provide detailed information about genetic variants, associated diseases, and available genetic tests, helping advance our understanding and management of these conditions.

References

• Themmen APN, Huhtaniemi IT (2000). “Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function”. Endocr. Rev. 21 (5): 551–83. doi:10.1210/er.21.5.551.
• Chen YT, Truex LL, Cannon JG, Freeman MR, Ulloa-Aguirre A, Leung PC, et al. (1987). “Characterisation of a variant form of luteinising hormone associated with female-limited infertility”. Nature. 330 (6147): 664–6. doi:10.1038/330664a0.
• Gromoll J, Simoni M, Nieschlag E (1996). “An activated luteinising hormone receptor allele is associated with male-limited precocious puberty”. Nat. Genet. 12 (4): 414–6. doi:10.1038/ng0496-414.
• Lybaek H, Andersen AN, Hagen CP, Wohlfahrt-Veje C, Wudy SA, Juul A (2013). “Polycystic ovaries in girls and women with 45,X/46,XY mosaicism: visualization of the impact of the Y chromosome on follicular development”. Hum. Reprod. 28 (6): 1697–702. doi:10.1093/humrep/det089.
• Liu TC, Lin MW, Hwu YM, Wang YP, Li SH, Li LH, et al. (2006). “Polycystic ovary syndrome in adolescents”. J. Formos. Med. Assoc. 105 (2): 77–81. doi:10.1016/S0929-6646(09)60168-4.
• World Health Organization (1993). “AAS/WHO Committee on Health Research, Technical Report Series No. 828. Research on the Menopause and Its Problems”. Geneva: World Health Organization.