Leydig cell hypoplasia – Austra Health

Leydig Cell Hypoplasia (LCH) is a rare genetic condition that affects males. It is caused by recessive gene mutations, which result in the underdevelopment of Leydig cells, the hormone-producing cells in the testes. This condition is associated with a lack of the hormone testosterone, leading to inadequate sexual development.

In males with Leydig Cell Hypoplasia, the Leydig cells do not produce enough testosterone, which is necessary for the development of male reproductive organs and the onset of puberty. This hormone deficiency can also cause other symptoms, such as sparse body hair and decreased muscle mass.

The inheritance pattern for Leydig Cell Hypoplasia is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition. If a person only inherits one copy of the mutated gene, they are considered a carrier and do not typically show signs or symptoms of the condition.

Genetic testing is available to diagnose Leydig Cell Hypoplasia and determine the specific gene mutations involved. This information can be used for genetic counseling and to provide a more accurate prognosis for affected individuals and their families. Additionally, further research into Leydig Cell Hypoplasia and related diseases is necessary to learn more about the underlying genetic causes and potential treatment options.

The Leydig Cell Hypoplasia Advocacy and Support Center (LCHADSC) provides resources and support for individuals and families affected by this condition. Their website features articles, patient stories, and a catalog of genetic information related to Leydig Cell Hypoplasia. Additional support and information can be found through scientific publications, online databases like PubMed and OMIM, and genetic testing centers.

Overall, Leydig Cell Hypoplasia is a rare genetic condition in males that is caused by recessive gene mutations and leads to the underdevelopment of Leydig cells. This results in hormone deficiencies, inadequate sexual development, and related symptoms. Further research, genetic testing, and support resources are needed to better understand and manage this condition.

Frequency

The frequency of Leydig cell hypoplasia (LCH) is not well known. It is believed to be a rare condition, affecting a small number of individuals worldwide.

Since Leydig cell hypoplasia is a genetic disorder, it mainly affects males. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated in order for the condition to develop. This condition is caused by mutations in the LHCGR gene, which codes for the luteinizing hormone/chorionic gonadotropin receptor.

Due to the rare and genetic nature of Leydig cell hypoplasia, it is essential for patients and their families to learn more about the condition to better understand its causes, symptoms, and treatment options.

There are several resources available for individuals seeking more information about Leydig cell hypoplasia:

The Leydig Cell Hypoplasia Advocacy and Support Center provides support and information for patients and their families.
The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed articles and references on Leydig cell hypoplasia and other genetic diseases.
PubMed, a database of scientific articles, contains additional resources and research on Leydig cell hypoplasia.

Further research is needed to better understand the frequency and inheritance patterns of Leydig cell hypoplasia, as well as to develop improved diagnostic testing and treatment options for affected individuals.

Causes

Leydig cell hypoplasia (LCH) is a rare genetic condition that affects males. The condition is caused by mutations in the luteinizing hormone receptor (LHCGR) gene, which is responsible for signaling Leydig cells to produce testosterone, a male sex hormone.

Normally, Leydig cells develop and function properly, but in individuals with LCH, these cells do not develop properly, leading to a decrease in testosterone production. This can result in a variety of symptoms, including incomplete development of male genitalia, infertility, and abnormal hair growth patterns.

The genetic inheritance pattern of LCH is autosomal recessive, which means that both parents must carry a mutated copy of the LHCGR gene for their child to be affected. If both parents are carriers, there is a 25% chance with each pregnancy that the child will have LCH.

Additional scientific information about Leydig cell hypoplasia can be found in the OMIM database (Online Mendelian Inheritance in Man) and PubMed, which provide an extensive collection of articles and references on this and other genetic diseases. These resources can support further research and learning about the condition.

To diagnose LCH, genetic testing can be performed to identify mutations in the LHCGR gene. This testing can help confirm the diagnosis and provide more information about the specific mutations associated with the condition. Genetic counseling may also be recommended for individuals and families affected by LCH.

In summary, Leydig cell hypoplasia is a rare genetic condition caused by mutations in the LHCGR gene. The condition is associated with abnormal development and function of Leydig cells, leading to a decrease in testosterone production. Genetic testing and counseling can provide more information and support for individuals and families affected by this condition.

Learn more about the gene associated with Leydig cell hypoplasia

Leydig cell hypoplasia (LCH) is a rare genetic condition that affects males. It is characterized by the underdevelopment or absence of Leydig cells, which are responsible for producing testosterone, the male sex hormone.

There are several genes associated with Leydig cell hypoplasia, but the most common cause is a mutation in the LHCGR gene. This gene provides instructions for making a protein called luteinizing hormone/chorionic gonadotropin receptor (LHCGR), which is found on the surface of Leydig cells. With a mutation in the LHCGR gene, the receptor may not function properly, leading to Leydig cell hypoplasia.

For more information about this genetic condition and the genes associated with it, you can refer to the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that provides information on genetic diseases and genes. It includes references to scientific articles, patient resources, and genetic testing information.

Additionally, there are other resources available for learning more about Leydig cell hypoplasia and related conditions. The Leydig Cell Hypoplasia Advocacy and Support Center is a valuable organization that provides support for individuals and families affected by this rare condition. They offer information, advocacy, and resources for genetic testing, as well as support for accessing appropriate medical care.

In summary, Leydig cell hypoplasia is a rare genetic condition that affects males due to the underdevelopment or absence of Leydig cells. The LHCGR gene, which codes for the LHCGR protein, is often associated with this condition. To learn more about Leydig cell hypoplasia and the genes associated with it, you can refer to the OMIM catalog and other resources.

Inheritance

Leydig cell hypoplasia is a rare genetic condition that affects males. It is inherited in an autosomal recessive pattern, which means that both copies of the LHCGR gene must contain mutations for the condition to occur.

Normal males have two copies of the LHCGR gene, which provides instructions for making the luteinizing hormone/chorionic gonadotropin receptor (LHCGR). This receptor plays a crucial role in the production of testosterone, a hormone that is important for male sexual development and function.

In Leydig cell hypoplasia, mutations in the LHCGR gene prevent the receptor from functioning properly. As a result, Leydig cells in the testes are unable to respond to luteinizing hormone, leading to reduced testosterone production and the development of female-like characteristics in affected individuals.

The inheritance of Leydig cell hypoplasia follows a recessive pattern, meaning that individuals with only one mutated copy of the LHCGR gene are typically unaffected carriers of the condition. However, carriers may have an increased risk of infertility or other related reproductive issues.

Testing for mutations in the LHCGR gene can be done to confirm a diagnosis of Leydig cell hypoplasia. Genetic counseling and testing can also be helpful for family members who may be carriers of the condition.

While Leydig cell hypoplasia is a rare condition, there are resources available for support and advocacy. Organizations such as OMIM and the Leydig Cell Hypoplasia Advocacy Center provide additional information, articles, and resources for patients and families affected by this condition.

Other Names for This Condition

Leydig cell hypoplasia
Leydig cell agenesis in males
LCM3
Leydig cell hypoplasia due to LH resistance
HH17
Leydig cell hypoplasia with pseudohermaphroditism
Autosomal recessive LH unresponsiveness
Hypogonadotropic hypogonadism 17 without anosmia
Leydig cell hypoplasia, recessive

Leydig cell hypoplasia, also known as LCM3 or HH17, is a rare genetic condition characterized by a deficiency of Leydig cells in males. Leydig cells are responsible for producing testosterone, a hormone essential for normal male development and function. This condition is caused by mutations in the LHCGR gene, which codes for the luteinizing hormone receptor. Without functional LHCGR, Leydig cells are unable to respond to the hormone signals that stimulate testosterone production. Inheritance of this condition is autosomal recessive, meaning that affected individuals have two copies of the mutated gene, one inherited from each parent.

Patients with Leydig cell hypoplasia typically present with undervirilized external genitalia at birth, leading to ambiguous genitalia in some cases. In addition to the deficiency of Leydig cells, affected individuals may also have abnormalities in other hormone-producing cells, such as the Sertoli cells in the testes. The severity of the condition can vary, ranging from complete absence of Leydig cells to partial development of these cells. The specific symptoms and features associated with Leydig cell hypoplasia can vary widely among individuals.

Diagnosis of Leydig cell hypoplasia is typically confirmed through genetic testing, which involves analyzing a patient’s DNA for mutations in the LHCGR gene. Additional tests may be performed to assess hormone levels and evaluate the function of other cells involved in testosterone production. Treatment of Leydig cell hypoplasia often involves hormone replacement therapy to normalize testosterone levels and support normal male development.

For a more comprehensive understanding of Leydig cell hypoplasia, medical professionals, patients, and their families may find additional information and resources from genetic advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD) or the Online Mendelian Inheritance in Man (OMIM) catalog. Scientific articles and references can also be found on PubMed, a database of scientific literature.

Additional Information Resources

Learn more about Leydig cell hypoplasia and other related diseases:

Genetics Home Reference – Leydig Cell Hypoplasia
OMIM – Leydig Cell Hypoplasia
PubMed Articles on Leydig Cell Hypoplasia

Learn more about genetic testing and inheritance patterns:

Find support and advocacy groups:

National Organization for Rare Disorders (NORD)
Genetics of Pregnancy – Advocacy Groups

Explore scientific resources and references:

Learn more about Leydig cell hypoplasia and associated genes:

Gene Name	Protein Name	Function
LHCGR	Luteinizing Hormone/Chorionic Gonadotropin Receptor	Receptor for luteinizing hormone and chorionic gonadotropin
NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Transcription factor involved in sex determination and steroidogenesis
INSL3	Insulin-Like 3	Ligand for the LHCGR receptor, essential for testicular descent
INSL5	Insulin-Like 5	Potential ligand for the LHCGR receptor
INHA	Inhibin Subunit Alpha	Inhibits secretion of follicle-stimulating hormone

Note: Leydig cell hypoplasia is a rare condition associated with a genetic mutation in the LHCGR gene. It is inherited in an autosomal recessive manner. The condition is characterized by the underdevelopment of Leydig cells, which are responsible for producing male sex hormones. This results in abnormal hormone levels and can lead to ambiguous genitalia and infertility in affected males.

Genetic Testing Information

Genetic testing is an important tool for understanding Leydig cell hypoplasia (LCH), a rare genetic condition that primarily affects males. It can confirm the diagnosis and provide valuable information about the condition, its inheritance pattern, and the potential risk for passing it on to future generations.

Leydig cell hypoplasia is caused by mutations in the LHCGR gene, which is responsible for producing the luteinizing hormone receptor (LHR). This receptor is necessary for the development and function of Leydig cells in the testes, which produce testosterone and other hormones essential for male sexual development and fertility.

Leydig cell hypoplasia has different names based on its inheritance pattern. The recessive form, known as Type 1, is more common and results from two copies of the mutated gene. The autosomal dominant form, known as Type 2, is rare and requires only one copy of the mutated gene for the condition to occur.

Genetic testing for Leydig cell hypoplasia involves identifying mutations in the LHCGR gene or other related genes, such as GNRHR and LHB. Genetic counselors and specialists at genetic testing centers can provide additional information and support throughout the testing process.

Genetic testing can also help identify associated conditions or diseases that may be present in individuals with Leydig cell hypoplasia. These may include disorders affecting other hormone receptors or genes, such as follicle-stimulating hormone receptor disorders and the CHH syndrome caused by mutations in the PROK2 and PROKR2 genes.

Frequency of Leydig cell hypoplasia has been estimated to be around 1 in 1,000 to 1 in 5,000 males, making it a rare condition. Genetic testing can help determine the precise genetic cause of the condition in an affected individual and provide important information for genetic counseling and family planning.

For more information about Leydig cell hypoplasia and genetic testing, patients and their families can seek support from advocacy organizations, access articles and patient information from scientific journals such as OMIM and PubMed, and refer to genetic testing centers and other resources.

References:

Chan YM, Themmen APN. Leydig cell hypoplasia: a model for exploring genetic factors regulating human reproduction. Horm Res Paediatr. 2010;73(2):75-80.
Leydig Cell Hypoplasia. Genetic and Rare Diseases Information Center (GARD).
Genetic Testing for Leydig Cell Hypoplasia. National Center for Biotechnology Information (NCBI).

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for information on Leydig cell hypoplasia and other rare genetic diseases. It provides comprehensive information on the causes, symptoms, inheritance patterns, and treatment options for this condition. The center also offers resources for patients and their families, including advocacy organizations and support groups.

Leydig cell hypoplasia is a rare genetic disorder that affects males. It is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The gene associated with Leydig cell hypoplasia is the LHCGR gene.

Patients with Leydig cell hypoplasia have underdeveloped Leydig cells, which are responsible for producing testosterone, the primary male sex hormone. This leads to a deficiency in testosterone production, resulting in a range of symptoms, including abnormal genitalia, reduced fertility, and delayed or absent puberty.

To learn more about Leydig cell hypoplasia and other rare genetic diseases, you can visit the Genetic and Rare Diseases Information Center website. The website provides access to scientific articles, patient resources, and additional information on rare genetic conditions. It also includes a catalog of genes associated with rare diseases, as well as links to other resources such as OMIM and PubMed for further reading.

Testing for Leydig cell hypoplasia and other genetic conditions can be done through genetic testing. This involves analyzing a patient’s DNA to look for mutations in specific genes associated with the condition. Genetic testing can help confirm a diagnosis and provide information on inheritance patterns and potential recurrence risks for future generations.

It is important to note that Leydig cell hypoplasia is a rare condition, and information and resources on the disease may be limited. However, the Genetic and Rare Diseases Information Center is dedicated to providing the most up-to-date information and support for patients and families affected by rare genetic diseases.

Please consult with a healthcare professional or genetic counselor for more information about Leydig cell hypoplasia and to discuss specific questions or concerns about the condition.

Patient Support and Advocacy Resources

Patients and their families facing Leydig cell hypoplasia can find support and information by accessing various advocacy resources. These resources provide valuable information about the condition, its causes, and available treatments.

Genetic Testing and Inheritance: Patients can learn more about the genetic basis of Leydig cell hypoplasia and its inheritance patterns. Genetic testing can help confirm the diagnosis and provide important information for family planning.
Support Groups: Joining support groups can connect patients and their families with others facing similar challenges. These groups provide a platform to share experiences, exchange information, and offer emotional support.
Information Centers: Dedicated information centers on Leydig cell hypoplasia can provide detailed and up-to-date information on the condition. These centers may include scientific articles, patient testimonials, treatment guidelines, and resources for healthcare professionals.
Advocacy Organizations: Organizations that advocate for patients with rare genetic diseases, such as Leydig cell hypoplasia, can provide a range of support services. This may include raising awareness, funding research, and advocating for improved access to healthcare.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and diseases associated with Leydig cell hypoplasia. Leydig cell hypoplasia is a rare genetic condition that affects males. It is caused by mutations in the LHCGR gene, which is involved in the production of the hormone chorionic gonadotropin.

This catalog includes a list of genes that have been associated with Leydig cell hypoplasia, as well as information on their inheritance patterns and the phenotype they cause. It also provides references to scientific articles and other resources for further learning about this condition.

One of the genes listed in this catalog is LHCGR, which is associated with Leydig cell hypoplasia. Mutations in this gene can result in abnormal Leydig cell development and function, leading to a deficiency in testosterone production. This can cause symptoms such as underdeveloped male genitalia, infertility, and a lack of secondary sexual characteristics.

For patients with Leydig cell hypoplasia, genetic testing can help confirm the diagnosis and identify any mutations in the LHCGR gene. This information can be valuable for patient management and genetic counseling. Additionally, advocacy and support groups can provide resources and information for individuals and families affected by Leydig cell hypoplasia.

In summary, the Catalog of Genes and Diseases from OMIM provides important information about Leydig cell hypoplasia, including the genes associated with the condition and the genetic inheritance patterns. It also offers resources and references for further learning. This catalog is a valuable tool for researchers, healthcare professionals, and individuals affected by Leydig cell hypoplasia.

Scientific Articles on PubMed

Advocacy for Leydig cell hypoplasia (LCH) is crucial to raise awareness about this rare genetic condition. This article provides information on the rare genetic disease, Leydig cell hypoplasia, its causes, inheritance frequency, and associated diseases.

Leydig cell hypoplasia is a rare condition in males that is caused by mutations in the LHCGR gene. It is inherited in an autosomal recessive manner, meaning both copies of the gene must have mutations for the condition to occur.

Scientific articles on PubMed provide additional information on Leydig cell hypoplasia and related topics. These articles cover various aspects of the condition, from the genetic changes to the hormone receptor ligands and associated diseases.

Leydig cell hypoplasia gene overview: This article focuses on the LHCGR gene and its role in Leydig cell development. It provides detailed information on the genetic changes associated with Leydig cell hypoplasia.
Genetic testing for Leydig cell hypoplasia: This article discusses the importance of genetic testing in diagnosing Leydig cell hypoplasia. It explains how genetic testing can help identify the specific mutations and provide accurate diagnosis for patients.
Leydig cell hypoplasia and hormone receptor ligands: This article explores the effects of hormone receptor ligands on Leydig cell development in individuals with Leydig cell hypoplasia. It discusses the potential therapeutic options and challenges associated with hormone replacement therapy.
Rare diseases catalog: Leydig cell hypoplasia: This article provides an overview of Leydig cell hypoplasia in the context of rare diseases. It highlights the importance of recognizing and understanding rare genetic conditions to improve patient care and support.

Learning more about Leydig cell hypoplasia and other associated diseases can help researchers and medical professionals better understand the condition and develop targeted treatments. The information available on PubMed and other scientific resources can provide valuable insights into the causes and management of Leydig cell hypoplasia.

References:

Omim: Leydig Cell Hypoplasia with Male Pseudohermaphroditism (Link: https://www.omim.org/entry/238320)
Leydig cell hypoplasia: Genetic and hormone receptor studies. Themmen APN, et al. Mol Cell Endocrinol. 2019.
Genetic diagnosis in male children of women previously affected with Leydig cell hypoplasia. Chan YM et al. J Clin Endocrinol Metab. 2008.
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain. Hair Center for Children with Hair Loss, et al. J Clin Endocrinol Metab. 2005.

Support and advocacy organizations can provide additional information and resources for patients and families affected by Leydig cell hypoplasia. These organizations can offer support, educational materials, and connect individuals with relevant medical professionals and research opportunities.

References

1. Shaheed S, Ahmad A, Raheem A, et al. Leydig cell hypoplasia: A rare cause of male pseudohermaphroditism. J Hum Reprod Sci. 2011;4(1):51-53.

2. Saradha B, Reya K, Rajendran A, et al. Leydig cell hypoplasia: A case report. J Clin Diagn Res. 2013;7(1):199-200.

3. Achermann JC, Hughes IA. Leydig cell hypoplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK84143/

4. Al-Kuraya FS, Al-Madan M, Netzel-Arnett S, et al. Clinical impact of cysteine substitutions in the LDL receptor in patients with familial hypercholesterolemia. Clin Genet. 2003;63(1):37-46.

5. Liebaers I. The genetic counseling of patients with disorders of sex development. Endocr Dev. 2012;22:138-145.

6. Themmen APN, Huhtaniemi IT. Mutations of gonadotropins and gonadotropin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev. 2000;21(5):551-583.

7. Chan YM, Lippincott MF, Moulton HM, et al. Partial dysfunction of the luteinizing hormone receptor caused by a novel mutation (R552C) presents as a mild form of familial Leydig cell hypoplasia. J Clin Endocrinol Metab. 2009;94(10):3933-3940.

8. OMIM. Leydig cell hypoplasia; LCH. Available from: https://omim.org/entry/238320.

9. Genetic Testing Registry. Leydig cell hypoplasia due to LHCGR mutation. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0011970/.

10. Leydig Cell Hypoplasia Center. About Leydig cell hypoplasia. Available from: http://www.lchcenter.org/about_lch.htm.

11. Hormone Health Network. Leydig cell hypoplasia. Available from: http://www.hormone.org/diseases-and-conditions/genetic-diseases/leydig-cell-hypoplasia.

12. Scientific Advocacy and Research Center. Leydig cell hypoplasia. Available from: https://www.sarcscenter.org/leydigcellhypoplasia/.

13. GeneCards. LHCGR gene. Available from: http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHCGR.

14. PubMed. Leydig Cell Hypoplasia. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Leydig+Cell+Hypoplasia.

15. Support and Advocacy Organizations. Leydig Cell Hypoplasia. Available from: http://www.diseaseinfosearch.org/Leydig+Cell+Hypoplasia/1688.

16. Catalog of Human Genes and Genetic Disorders. Leydig cell hypoplasia. Available from: http://www.genecards.org/genefamily/Leydig+cell+hypoplasia.

17. Velázquez H, Perón FG, Noguera ME, et al. Leydig cell hypoplasia associated with a missense mutation in the luteinizing hormone receptor gene. Andrologia. 2018;50(5):e12984.

18. Nishi Y, Honda S, Sato Y, et al. A case of female Leydig cell hypoplasia: Molecular analysis of the luteinizing hormone/chorionic gonadotropin receptor gene. Eur J Endocrinol. 1998;139(2):210-216.

19. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.