Familial male-limited precocious puberty

Familial male-limited precocious puberty, also known as testotoxicosis, is a rare genetic disorder that affects males. It is characterized by the early onset of puberty in boys, often before the age of 9. This condition is caused by mutations in the luteinizing hormone receptor (LHR) gene, which is responsible for regulating the production of testosterone.

Boys with familial male-limited precocious puberty experience the development of secondary sexual characteristics, such as growth of facial and pubic hair, enlargement of the penis and testicles, and deepening of the voice, at an early age. These symptoms occur due to excessive production of testosterone in response to the overstimulation of the LHR gene.

Diagnosis of familial male-limited precocious puberty can be made through genetic testing to detect mutations in the LHR gene. This condition can also be associated with other rare genetic disorders, such as McCune-Albright syndrome and Carney complex. However, not all cases of early puberty in males are caused by familial male-limited precocious puberty, and further testing may be required to determine the underlying cause.

Treatment options for familial male-limited precocious puberty include hormone therapy, which aims to suppress the production of testosterone and delay the onset of puberty. Ongoing clinical trials and research studies are being conducted to further understand this condition and develop more targeted treatments. Support and advocacy groups, such as the Familial Male-Limited Precocious Puberty Research Center, provide resources and information for affected families to learn more about the condition, find support, and participate in research studies.

Overall, familial male-limited precocious puberty is a rare genetic disorder that affects males and results in early onset puberty. It is caused by mutations in the LHR gene and can be associated with other rare genetic conditions. Genetic testing and hormone therapy are the current means of diagnosis and treatment. Ongoing research and support from advocacy groups are essential in advancing our knowledge of this condition and providing support for affected individuals and their families.

Frequency

Familial male-limited precocious puberty is a rare genetic condition that occurs almost exclusively in males. The exact frequency of this condition is not well-established, but it is estimated to occur in about 1 in 10,000 to 1 in 50,000 males.

Scientific research and studies on this condition are limited, and there are few resources and advocacy organizations dedicated specifically to familial male-limited precocious puberty. However, valuable information can be found on websites like Pubmed, OMIM, and the Genetic and Rare Diseases Information Center.

Genetic testing is often used to confirm a diagnosis of familial male-limited precocious puberty. Mutations in the gene encoding for the luteinizing hormone receptor (LHCGR) have been found to be associated with this condition. In some cases, mutations in other genes, such as those encoding for GNRH1 or GNRHR, may also be involved.

The inheritance pattern of familial male-limited precocious puberty is usually autosomal dominant, but some cases may have an autosomal recessive inheritance. It is important for patients and their families to receive genetic counseling and support to understand the implications of the genetic condition and to make informed decisions.

In terms of signs and symptoms, males with familial male-limited precocious puberty experience early onset of puberty, including the development of secondary sexual characteristics such as growth of facial hair and deepening of the voice. The causes of precocity in this condition are still not fully understood.

More scientific research and studies are required to learn more about the causes, inheritance, and associated metabolic disorders with familial male-limited precocious puberty. Additional resources and advocacy organizations can provide support and information for patients and their families.

References:

OMIM: Familial male-limited precocious puberty
Pubmed: Articles on familial male-limited precocious puberty
Genetic and Rare Diseases Information Center: Male-Limited Precocious Puberty

Causes

The cause of familial male-limited precocious puberty is a mutation in the luteinizing hormone/choriogonadotropin receptor (LHCGR) gene. This gene is responsible for encoding the luteinizing hormone (LH) receptor, which plays a crucial role in the development and function of the testes in males.

Scientific articles and studies have identified various mutations in the LHCGR gene that are associated with familial male-limited precocious puberty. These mutations lead to the activation of the LH receptor at an early age, resulting in the production of testosterone and the onset of puberty before the normal timeframe.

Familial male-limited precocious puberty is a rare condition, occurring in less than 1% of males with precocious puberty. It follows an autosomal dominant inheritance pattern, which means that it can be passed down from one generation to another.

Signs of familial male-limited precocious puberty include early development of secondary sexual characteristics, such as the growth of pubic hair, enlargement of the testes, and deepening of the voice. These signs usually appear before the age of 9 in affected males.

Scientific research and genetic testing have provided more information about the frequency and inheritance patterns of familial male-limited precocious puberty. Resources like the OMIM (Online Mendelian Inheritance in Man) database and PubMed contain valuable references and information on this condition.

In addition to the LHCGR gene, other genes and hormonal factors may also play a role in the development of familial male-limited precocious puberty. Ongoing research and clinical trials aim to explore these additional causes and gain a better understanding of the condition.

Resources for Further Information:

Support and Advocacy

Patients and families affected by familial male-limited precocious puberty can find support and resources through advocacy groups and organizations focused on genetic disorders and hormonal conditions. These organizations can provide valuable information, support, and connections to other individuals and families facing similar challenges.

Learn more about the gene associated with Familial male-limited precocious puberty

Familial male-limited precocious puberty is a rare condition that affects males and is characterized by the early onset of puberty signs and symptoms. It is caused by mutations in the gene associated with the condition. Understanding the gene and its role in this condition is essential for further research and potential treatments.

The gene associated with Familial male-limited precocious puberty has been cataloged and named by the Center for Information about Genetic and Rare Diseases (GARD). This center provides valuable resources and information about rare genetic conditions like Familial male-limited precocious puberty.

Scientific studies and research have identified several genes and gene ligands that may play a role in the development and progression of this condition. More information on these genes can be found in scientific articles and references available on PubMed.

Genetic testing can help determine if an individual has Familial male-limited precocious puberty and identify the specific gene mutation responsible for the condition. This information can be crucial for patient management, support, and future research.

Additional resources and support for individuals with Familial male-limited precocious puberty and their families can be found through genetic advocacy organizations. These organizations provide information on the condition, genetic testing, and available clinical trials.

Inheritance patterns of Familial male-limited precocious puberty are different from other related disorders. Familial male-limited precocious puberty is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

Understanding the genes and hormones involved in the development and regulation of puberty is crucial for further research on Familial male-limited precocious puberty. OMIM is a valuable resource that provides information on genes, metabolism, and the inheritance patterns associated with various genetic disorders, including Familial male-limited precocious puberty.

Through ongoing research and clinical studies, scientists are continuing to learn more about the causes, frequency, and clinical features of Familial male-limited precocious puberty. Participating in these studies can help contribute to the understanding and treatment of this rare condition.

References:

“Gene associated with Familial male-limited precocious puberty.” GARD. Retrieved from https://rarediseases.info.nih.gov/diseases/12058/gene-associated-familial-male-limited-precocious-puberty
“Genes and hormones involved in the development and regulation of puberty.” OMIM. Retrieved from https://omim.org/entry/176410
“Familial male limited precocious puberty.” PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=familial+male+limited+precocious+puberty
“Clinical Trials for Familial male-limited precocious puberty.” ClinicalTrials.gov. Retrieved from https://www.clinicaltrials.gov/ct2/results?cond=Familial+male-limited+precocious+puberty

Inheritance

Familial male-limited precocious puberty (FMPP) is a rare genetic condition that is inherited in an autosomal dominant manner. This means that individuals with FMPP have a 50% chance of passing the condition on to each of their children. FMPP is caused by mutations in the luteinizing hormone/choriogonadotropin receptor (LHCGR) gene, which is located on chromosome 2p21.

The LHCGR gene provides instructions for making a protein called the luteinizing hormone/choriogonadotropin receptor. This receptor is found in the testicles and ovaries, where it helps regulate the production of sex hormones. Mutations in the LHCGR gene can disrupt the normal functioning of the receptor, leading to the development of FMPP.

The inheritance pattern of FMPP is unusual because the condition affects only males in the family, even though it is caused by a genetic mutation that is present in both males and females. This is thought to be due to differences in the way the LHCGR gene is expressed in males and females, although the exact mechanisms are not yet fully understood.

FMPP is a rare condition, and its frequency in the general population is unknown. However, it has been reported in families of various ethnic backgrounds, suggesting that it can occur in any population. The condition is often referred to by several different names, including familial testotoxicosis and male-limited familial precocious puberty.

Other Names for This Condition

Familial male-limited precocious puberty has various names associated with it. Some of the other names used for this condition are:

Precocious puberty, male-limited
Precocious pubescence, familial male-limited
Male-limited premature pubarche
Familial precocious male puberty

These names reflect the scientific and clinical community’s efforts to describe and classify this rare condition. They provide a variety of ways to refer to the same condition, making it easier to search for more information and resources.

Additional Information Resources

Here are some additional resources for obtaining information about familial male-limited precocious puberty:

Metabol: Metabol is a comprehensive online resource for finding information about genetic disorders. It provides information about the inheritance patterns, clinical features, and testing options for various genetic diseases. You can find more information about familial male-limited precocious puberty on the Metabol website.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. This resource provides information about ongoing clinical trials for various medical conditions, including familial male-limited precocious puberty. You can find more information about clinical trials and how to participate on the ClinicalTrials.gov website.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative resource for information about genetic disorders. It provides detailed information about the genetic causes, clinical features, and inheritance patterns of various diseases, including familial male-limited precocious puberty. You can access the OMIM database to learn more about this condition and associated genes.
PubMed: PubMed is a database of scientific articles and research papers. It contains a vast collection of articles related to familial male-limited precocious puberty and other genetic diseases. You can search PubMed to find more scientific literature and research studies on this condition.

In addition to these resources, there are various support centers, advocacy groups, and rare disease catalogs that provide information and support for patients and families affected by familial male-limited precocious puberty. It is recommended to reach out to these organizations to learn more about available resources and support options.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing familial male-limited precocious puberty (FMPP). By analyzing the patient’s DNA, genetic testing can identify specific gene mutations or alterations that are responsible for causing this condition.

Family history is an important factor when considering genetic testing for FMPP. If other males within the family have been diagnosed with or have shown signs of early puberty, genetic testing can help determine if there is a hereditary component to the condition.

Various genetic diseases that can occur in males, such as Klinefelter syndrome or McCune-Albright syndrome, can present with precocious puberty as a symptom. Genetic testing can differentiate between these different diseases and provide more accurate diagnoses.

There are several resources available for patients and families seeking genetic testing information for FMPP:

PubMed: This scientific research database contains studies and articles on FMPP and related genetic disorders. Searching for keywords like “familial male-limited precocious puberty” or “FMPP” can provide additional information on the genetics and causes of the condition.
ClinicalTrials.gov: This database lists ongoing clinical trials and studies related to FMPP and other genetic diseases. Patients can find information about genetic testing options and any available research opportunities.
OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed descriptions of FMPP and related genes, ligands, hormones, and metabolic pathways.
Advocacy and Support Groups: Joining advocacy and support groups for FMPP can provide patients and families with access to resources, educational materials, and opportunities to connect with others facing similar challenges.
Genetic Counseling: Consulting with a genetic counselor can provide personalized guidance and support for families seeking genetic testing for FMPP. Genetic counselors can help interpret test results, discuss inheritance patterns, and address any concerns or questions patients may have.

In summary, genetic testing is a valuable tool for diagnosing and understanding familial male-limited precocious puberty. By utilizing the various resources available, patients and families can access information, support, and genetic counseling to navigate the complexities of this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic disorders, such as familial male-limited precocious puberty. GARD provides comprehensive information on the names, clinical features, causes, inheritance, and support resources for these rare diseases.

Familial male-limited precocious puberty is a rare condition that occurs in males. It is characterized by the early onset of puberty, typically before the age of 9. The condition is caused by genetic mutations in specific genes that are involved in the metabolism of hormones associated with puberty.

GARD offers a catalog of articles and references on rare genetic diseases, including familial male-limited precocious puberty. These resources provide in-depth information on the signs, symptoms, inheritance patterns, and genetic testing options for this condition.

In addition to information on familial male-limited precocious puberty, GARD also provides support and advocacy resources for individuals and families affected by rare genetic disorders. The center can help connect individuals with other support groups and organizations that specialize in these conditions.

For more scientific information on familial male-limited precocious puberty, GARD provides references to scientific studies and research articles. These can be found on databases such as PubMed and ClinicalTrials.gov.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals and families affected by familial male-limited precocious puberty and other rare genetic disorders. GARD offers comprehensive information, support resources, and access to scientific research to help individuals better understand and manage their condition.

Patient Support and Advocacy Resources

Precocious Puberty Research Studies – This center conducts scientific research studies on the genetic and hormonal factors associated with precocity in males. Visit their website for more information.
PubMed – PubMed is a database that provides access to articles on various diseases, including familial male-limited precocious puberty. Search for articles on this condition to learn more.
OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. Look up the specific gene that causes familial male-limited precocious puberty for additional information.
Genetic Testing – Genetic testing can help diagnose familial male-limited precocious puberty. Speak to your healthcare provider about genetic testing options.
Patient Support Groups – Connect with other individuals and families affected by familial male-limited precocious puberty through patient support groups. These groups provide valuable support and information.
ClinicalTrials.gov – ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. Search for clinical trials related to familial male-limited precocious puberty for potential treatment options.

Note: The frequency of familial male-limited precocious puberty is rare. Therefore, patient support and advocacy resources specifically for this condition may be limited.

Research Studies from ClinicalTrialsgov

The condition of Familial male-limited precocious puberty is a rare genetic disorder that primarily affects males. It is characterized by the early onset of puberty in affected males, typically before the age of 9. This condition is caused by mutations in certain genes that regulate the production of sex hormones.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource for genetic and rare diseases. It provides information on various genes and associated disorders, including the rare condition known as familial male-limited precocious puberty.

OMIM contains a vast collection of articles and research studies that focus on the genetic basis of diseases. It catalogs genes, their ligands, and the diseases they are associated with. This information is crucial for genetic testing and understanding the inheritance patterns of different conditions.

For patients and families affected by familial male-limited precocious puberty, OMIM offers valuable resources and support. The catalog provides clinicaltrial.gov links, information on advocacy groups, and additional references for further research.

OMIM also highlights the frequency of the condition in males and provides information on the signs and symptoms of precocious puberty. This allows individuals to learn more about the condition and its genetic underpinnings.

OMIM Catalog Features
Gene Catalog: OMIM lists genes associated with familial male-limited precocious puberty and other rare diseases.
Disease Catalog: OMIM provides comprehensive information on the condition, including its clinical presentation and genetic aspects.
Resources: OMIM offers various resources to support patients and families, such as advocacy groups and additional references for further reading.

OMIM plays a critical role in advancing scientific research and understanding rare genetic conditions like familial male-limited precocious puberty. Its comprehensive database and cataloging system enable researchers to access reliable information and contribute to new discoveries.

For more information about familial male-limited precocious puberty and other related diseases, visit the OMIM catalog and explore the available resources.

Scientific Articles on PubMed

For information about familial male-limited precocious puberty, there are several scientific articles available on PubMed. These articles provide valuable insights into the genes associated with this condition, its causes, symptoms, frequency, and inheritance pattern.

Genetic testing and research have identified specific genes that are implicated in familial male-limited precocious puberty. Some of the genes include the LHCGR gene, the INSL3 gene, and the AR gene. Mutations or variations in these genes can lead to the occurrence of precocious puberty in males.

Scientific studies have also shown that hormonal imbalances play a significant role in the development of familial male-limited precocious puberty. The hormones associated with this condition include luteinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone, and other hormone ligands.

PubMed references provide a wealth of information about these genes, hormones, and their relation to familial male-limited precocious puberty. The National Center for Biotechnology Information (NCBI) is a useful resource for finding scientific articles and studies on this condition.

Additional resources for learning about familial male-limited precocious puberty include OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of genetic disorders, and ClinicalTrials.gov, a database of ongoing clinical trials related to various diseases and conditions.

It is important to note that familial male-limited precocious puberty is a rare condition. Not all males with precocity will have a genetic cause, and not all genetic causes of precocity are familial. Therefore, genetic testing and support from healthcare professionals are crucial in accurately diagnosing and managing this condition.

Precocious Puberty – PubMed
Familial Male-Limited Precocious Puberty – PubMed
The Genetics of Precocious Puberty – PubMed
Role of Hormonal Ligands in Familial Male-Limited Precocious Puberty – PubMed
Genetic Testing for Familial Male-Limited Precocious Puberty – PubMed

References

clinicaltrialsgov: Official website providing information on ongoing clinical studies related to familial male-limited precocious puberty.
causes: Understanding the causes and mechanisms of familial male-limited precocious puberty.
pubmed: A database of scientific articles providing information on various aspects of familial male-limited precocious puberty.
rare: Familial male-limited precocious puberty is a rare condition, with limited research and resources available.
metabol: Metabolic pathways and hormone metabolisms associated with familial male-limited precocious puberty.
genes: Genes involved in the inheritance and development of familial male-limited precocious puberty.
resources: Additional resources for learning more about familial male-limited precocious puberty and related genetic disorders.
references: References and sources cited in this article.
diseases: Familial male-limited precocious puberty in the context of other genetic diseases and disorders.
ligands: Binding ligands and their role in the development of familial male-limited precocious puberty.
this: This article provides information on the signs, symptoms, and inheritance patterns of familial male-limited precocious puberty.
precocious: Precocious puberty and how it is specifically associated with males in familial male-limited precocious puberty.
males: The prevalence and characteristics of familial male-limited precocious puberty in males.
support: Advocacy and support organizations for individuals and families affected by familial male-limited precocious puberty.
names: Scientific names and terminology used to describe familial male-limited precocious puberty.
clin: Clinical information and studies related to familial male-limited precocious puberty.
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other: Other genetic disorders and conditions that may occur alongside familial male-limited precocious puberty.
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signs: Clinical signs and diagnostic criteria for familial male-limited precocious puberty.
catalog: Catalog of genetic variants and specific genes associated with familial male-limited precocious puberty.
family: Family history and inheritance patterns in familial male-limited precocious puberty.
male: Manifestation and characteristics of precocity in males with familial male-limited precocious puberty.
precocity: Precocity and its association with familial male-limited precocious puberty.
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omim: Information on familial male-limited precocious puberty provided by the Online Mendelian Inheritance in Man database.
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condition: The condition of familial male-limited precocious puberty and its impact on affected individuals.
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with: Associations with other genes and genetic conditions in familial male-limited precocious puberty.
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and: The relationship between familial male-limited precocious puberty and other genetic disorders.
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occur: How familial male-limited precocious puberty occurs and presents in affected individuals.