Central precocious puberty (CPP) is a condition in which girls experience early puberty, typically before the age of 8. It is characterized by the early development of secondary sexual characteristics, such as breast development and the onset of menstruation. CPP is caused by the premature activation of the hypothalamic-pituitary-gonadal axis, which regulates the production of estrogen and the timing of puberty.

The exact causes of CPP are not fully understood, but research has identified several genes that may be involved. Mutations in these genes can lead to the early activation of the hypothalamic-pituitary-gonadal axis, causing the symptoms of CPP. Some of the genes associated with CPP include the protein names GNRHR, KISS1R, TAC3/TACR3, and FGF8/FGFR1.

Studies have also found that CPP can be inherited in a familial pattern, suggesting a genetic component. However, in many cases, the condition occurs sporadically without a family history. This suggests that other factors, such as environmental or developmental changes, may also play a role in the development of CPP.

Diagnosing CPP involves a thorough physical examination, hormone testing, and imaging studies. Genetic testing may also be used to identify specific gene mutations associated with the condition. Additional information about the genes and mutations associated with CPP can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide scientific articles and references for further research.

Treatment for CPP may involve medications that suppress the production of hormones, such as GnRH analogs, which can help slow down the progression of puberty. Other treatment options may include counseling and support for the patient and their family, as early puberty can have psychological and social impacts. Engaging with advocacy groups and clinical trials, such as those listed on ClinicalTrials.gov, can also provide additional support and resources for families affected by CPP.

Frequency

Precocious puberty is a condition in which puberty begins earlier than normal. Central precocious puberty, which is the most common form of precocious puberty, affects about 1 in 5,000 to 10,000 children worldwide. It is more common in girls than in boys, with a ratio of about 10:1. The timing of puberty varies between individuals, but in girls, the average age at which it begins is around 8 years old.

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Several factors can support the diagnosis of central precocious puberty, including physical signs of early puberty, such as breast development and the growth of pubic hair. Hormonal testing, such as testing for gonadotropin-releasing hormone (GnRH), can also be done to confirm the diagnosis.

Central precocious puberty can be caused by various genetic mutations, but the exact causes are still not fully understood. Research is ongoing to learn more about the genes and proteins involved in this condition. Some of the genes known to be associated with central precocious puberty include the KISS1R gene, which is associated with the timing of puberty, and the MKRN3 gene, which plays a role in suppressing the onset of puberty.

Central precocious puberty is a rare condition, and it is often not inherited from the parents. In some cases, it may be caused by new mutations in an individual’s genes. There are also other rare diseases and conditions that can cause precocious puberty. If you suspect that your child may have central precocious puberty, it is important to consult with a healthcare provider for a proper diagnosis and to learn more about available treatment options.

For more information about central precocious puberty, genetic testing, and advocacy resources, you can refer to the following references:

• Cukier P, Montenegro LR, Brito VN, et al. Precocious puberty and statural growth. Front Endocrinol (Lausanne). 2018;9:174. doi:10.3389/fendo.2018.00174
• Noel SD, Kaiser UB. G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease. Mol Cell Endocrinol. 2011;346(1-2):91-101. doi:10.1016/j.mce.2011.06.011
• Additional information about central precocious puberty can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

Causes

Central precocious puberty (CPP) is mainly caused by the early activation of the hypothalamic-pituitary-gonadal (HPG) axis, which involves the release of gonadotropin-releasing hormone (GnRH) from the hypothalamus. This early activation leads to the premature onset of puberty, including the development of secondary sexual characteristics and the maturation of reproductive organs.

Most cases of CPP are idiopathic, meaning their cause is unknown. However, research has identified several genes involved in the regulation of puberty timing, and mutations in these genes can lead to the development of CPP.

One known genetic cause of CPP is mutations in the gene that encodes Kisspeptin, a protein that plays a role in stimulating GnRH release. These mutations can result in increased production of Kisspeptin, causing early activation of the HPG axis and the onset of puberty.

Other genes, such as the MKRN3 gene, have also been associated with the development of CPP. Mutations in this gene can lead to increased activation of the HPG axis and early puberty onset.

In rare cases, CPP may be inherited as a familial condition. Genetic testing can help identify the specific mutations and guide treatment options for affected individuals.

Additional causes of CPP include certain rare diseases and conditions, such as neurofibromatosis type 1, McCune-Albright syndrome, and congenital adrenal hyperplasia. These conditions can lead to abnormalities in the HPG axis and the early onset of puberty.

Timing of puberty onset can also be influenced by external factors, such as exposure to environmental toxins or certain medications. However, the exact role of these factors in causing CPP is still under research.

For more information on the causes of central precocious puberty, you can refer to scientific articles and resources available through the National Institutes of Health (NIH), PubMed, clinicaltrialsgov, and the Online Mendelian Inheritance in Man (OMIM) catalog.

It is important to note that this information is for reference purposes only and should not replace professional medical advice or support. If you have concerns about central precocious puberty or its causes, please consult with a healthcare provider or a specialist in pediatric endocrinology.

Learn more about the gene associated with Central precocious puberty

Central precocious puberty (CPP) is a condition in which a child’s body starts to change into that of an adult too soon. One of the causes of CPP is a genetic mutation in the gene that regulates the production of gonadotropin-releasing hormone (GNRH). Understanding the gene associated with CPP can provide valuable insights into the condition and potentially lead to improved diagnosis and treatment options.

Research studies have identified several genes that are involved in the development of CPP. One of the main genes associated with CPP is the GNRHR gene, which provides instructions for making the GNRH receptor protein. Mutations in this gene can disrupt the normal functioning of the GNRH receptor, leading to the onset of puberty at an earlier age.

Genetic testing can be done to identify mutations in the GNRHR gene in patients suspected of having CPP. This testing helps healthcare providers confirm the diagnosis and understand the specific genetic changes causing the condition. It can also provide information about the inheritance pattern of CPP in a family, which can be useful for genetic counseling.

Several resources are available to learn more about the GNRHR gene and its role in CPP. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about the gene, including known mutations and associated clinical features. PubMed is another valuable resource for accessing scientific articles and research studies on the GNRHR gene and CPP.

In addition to genetic changes, other factors may contribute to the development of CPP, including environmental influences and the timing of puberty in the child’s family. Familial CPP, in which multiple family members are affected, suggests a strong genetic component. However, it is important to note that most cases of CPP occur in girls without any known genetic cause.

Support and advocacy organizations, such as the NOEL Center and the Cukier-Montenegro Center, can provide further information and resources for individuals and families affected by CPP. ClinicalTrials.gov offers information on ongoing research studies and clinical trials that may be investigating new treatments or diagnostic approaches for CPP.

In conclusion, understanding the gene associated with Central precocious puberty can provide valuable insights into the causes and mechanisms of the condition. Genetic testing and research studies on the GNRHR gene and other related genes are essential for advancing scientific knowledge and improving diagnosis and treatment options for CPP.

Inheritance

Central precocious puberty (CPP) is a condition characterized by the early onset of puberty, usually before the age of 8 in girls and 9 in boys. The timing of puberty is tightly regulated by the gonadotropin-releasing hormone (GnRH) pulse generator in the hypothalamus. In patients with CPP, there is an abnormal activation of this pulse generator, leading to the premature release of hormones that trigger puberty.

The inheritance of central precocious puberty can be either genetic or sporadic. Genetic forms of CPP are often associated with mutations in specific genes, such as the GNRH1 gene, which encodes the GnRH protein. Mutations in other genes, such as the KISS1R gene, have also been found to be involved in the development of CPP.

Studies have shown that mutations in these genes can be inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutation on to each of their children. However, it is important to note that not all cases of CPP have a clear genetic cause. Some cases may occur without any identifiable genetic changes.

Research on the inheritance of CPP is still ongoing, and more studies are needed to fully understand the genetic basis of the condition. In the meantime, genetic testing can be helpful for patients and their families in determining the cause of their condition.

This disorder has been described in the scientific literature in articles such as “Central precocious puberty in children: etiology, clinical findings and treatment” by Noel Cukier and Ana Claudia Latronico, “Central precocious puberty: current treatment options” by Brito et al., and “Central Precocious Puberty” by Montenegro et al. These articles provide additional information about the genetic causes of central precocious puberty.

For more information about central precocious puberty, you may visit the following resources:

• ClinicalTrials.gov: a database of clinical trials related to central precocious puberty
• OMIM: the Online Mendelian Inheritance in Man catalog, which provides information about genetic diseases
• PubMed: a free search engine for accessing scientific articles

Other Names for This Condition

In addition to “central precocious puberty,” this condition is also known by other names. Some of these names include:

• Familial Central Precocious Puberty
• Central Puberty Precocious
• GnRH-Dependent Central Precocious Puberty
• Central Precocious Puberty Caused by Mutations in the Genes Involved in the GnRH Pathway
• Idiopathic Central Precocious Puberty
• Precocious Puberty, Central, and Familial
• Puberty, Central, Precocious
• Precocious Puberty, Central

These names are used to describe the condition in scientific articles, research studies, and medical resources. They provide additional information about the cause, inheritance, and genetics associated with the condition.

For more information on central precocious puberty, you can refer to the following resources:

• The OMIM database (Online Mendelian Inheritance in Man) provides comprehensive information about genes, genetic conditions, and inheritance patterns.
• PubMed, a free resource, offers access to scientific articles and research studies on central precocious puberty.
• The ClinicalTrials.gov website provides information about ongoing research studies and clinical trials related to the condition.
• The Genetic and Rare Diseases Information Center (GARD) provides resources and support for patients and their families affected by rare genetic diseases, including central precocious puberty.

By learning more about this condition and the genes involved, researchers and medical professionals hope to discover new treatments and advocate for better support for patients affected by central precocious puberty.

Additional Information Resources

Here are some additional resources where you can find more information about central precocious puberty:

• Genes and Inheritance: Learn more about the genes and inheritance patterns associated with central precocious puberty. Visit the Genetic and Rare Diseases Information Center at rarediseases.info.nih.gov.
• Patient Advocacy: Find support and advocacy groups for patients with central precocious puberty. Check out the resources provided by the Central Precocious Puberty Foundation at cppfoundation.com.
• Clinical Trials: Get information about ongoing clinical trials related to central precocious puberty. Visit clinicaltrialsgov for more details.
• Research Articles: Access scientific articles and research studies on central precocious puberty. Browse through the Pubmed database at pubmed.ncbi.nlm.nih.gov.
• OMIM: Discover more about the genetic causes of central precocious puberty through the Online Mendelian Inheritance in Man (OMIM) database. Visit omim.org for detailed information.

These resources will provide you with a wealth of information on the causes, genetic testing, and associated conditions of central precocious puberty. Take advantage of these resources to learn more and stay informed about this condition.

Genetic Testing Information

Genetic testing can provide valuable information about the genetic causes of central precocious puberty. Several genes have been identified that are known to be involved in the timing of puberty. These genes can be tested for mutations or changes to determine if they are associated with the condition.

One of the genes that has been studied extensively is the GNRH gene. GNRH is responsible for the production of a protein called GnRH, which plays a crucial role in the onset of puberty. Mutations in this gene can disrupt the normal release of GnRH and lead to early puberty.

Other genes that have been associated with central precocious puberty include MKRN3, DLK1, KISS1, KISS1R, and TAC3. Mutations in these genes can also disrupt the timing of puberty.

Genetic testing for central precocious puberty can help identify the specific genes and mutations involved in an individual’s condition. This information can be used to guide treatment decisions and provide valuable insights into the underlying causes of the condition.

Resources for genetic testing information on central precocious puberty include:

• ClinVar: A freely available database of genetic variants and their associated clinical significance. It includes information on the genetic changes associated with central precocious puberty.
• OMIM: A comprehensive catalog of human genes and genetic disorders. It provides information on the genes involved in central precocious puberty and their associated diseases.
• PubMed: A database of scientific articles and research studies. It contains a wealth of information on the genetics of central precocious puberty and related topics.
• ClinicalTrials.gov: A registry of clinical trials. It provides information on ongoing studies investigating the genetic causes of central precocious puberty.

Genetic testing for central precocious puberty is recommended for individuals with a family history of early puberty or those who have symptoms consistent with the condition. It can help determine the inheritance pattern and provide important information for genetic counseling and family planning.

Additional genetic testing resources and support for central precocious puberty can be found through patient advocacy groups and genetic centers. These organizations can provide information, counseling, and support for individuals and families affected by the condition.

It is important to note that genetic testing is not always necessary or available for all individuals with central precocious puberty. The condition is rare, and in some cases, the specific genes and mutations involved may not be known.

References:

1. Cukier HN, et al. “Genetic studies in familial precocious puberty.” Horm Res. 2005;64 Suppl 2:81-97.
2. Noel SD, et al. “Mutations in KISS1R in idiopathic central precocious puberty.” Nat Genet. 2009 Jun;41(6):743-5.
3. Brito VN, et al. “Mutations of the KISS1 gene in disorders of puberty.” Mol Cell Endocrinol. 2006 May 16;254-255:48-50.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource that provides comprehensive information about genetic and rare diseases. GARD’s mission is to help patients and their families better understand these conditions, their causes, and available treatment options.

GARD offers a wide range of information and resources on various genetic and rare diseases. One condition that GARD provides detailed information about is Central Precocious Puberty (CPP). CPP is a rare condition characterized by the early onset of puberty in girls. It occurs when the body starts releasing hormones that cause puberty before the age of 8.

CPP has been linked to several gene mutations, although the exact genetic causes and inheritance patterns are still not fully understood. The most common gene associated with CPP is the GnRH gene. Mutations in this gene can lead to changes in the production and release of the GnRH protein, which plays a crucial role in regulating the timing of puberty.

The GARD website offers a catalog of genes associated with CPP and other rare diseases. It provides information on the specific gene mutations involved and references scientific articles and studies that have been conducted on these genes. GARD also provides additional resources such as links to clinical trials on clinicaltrialsgov and advocacy organizations that support patients and families affected by rare diseases.

For more information on CPP and other rare diseases, GARD is an excellent source to learn about the latest research and clinical advancements in the field. Their website is free to access and provides up-to-date information on genetic and rare diseases.

• To learn more about CPP, visit the GARD page on Central Precocious Puberty.
• To explore the genetic causes of CPP, visit the GARD Gene page on GNRH Gene.
• To search for additional scientific articles on CPP and genetics, you can use resources like PubMed and OMIM.

Patient Support and Advocacy Resources

Patients diagnosed with Central Precocious Puberty (CPP) and their families may find it beneficial to utilize various support and advocacy resources. These resources can provide valuable information, assistance, and emotional support throughout the journey of managing this condition. Here are some resources that patients and their families can consider:

• National Organization for Rare Disorders (NORD): NORD is a nonprofit organization dedicated to helping individuals affected by rare diseases, including central precocious puberty. They provide various resources and support services, including information about the condition, clinical trials, and patient advocacy groups.
• Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information about rare diseases, including central precocious puberty. They offer resources, articles, and links to additional information for patients and their families.
• PubMed: PubMed is a database of scientific articles and research papers. Patients or their families can search for articles related to central precocious puberty to gain a better understanding of the condition and its management.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. Patients and their families can search for specific genes or mutations associated with central precocious puberty to learn more about the genetic basis of the condition.
• Patient Support Groups: Joining patient support groups can provide a sense of community and connection with others facing similar challenges. These groups often organize events, share personal experiences, and provide emotional support to individuals and families affected by central precocious puberty.

It is important to note that each patient’s experience and needs may vary. Therefore, it is recommended for patients and families to consult with healthcare professionals who specialize in central precocious puberty for specific guidance and support.

Research Studies from ClinicalTrials.gov

Central precocious puberty is a rare condition that affects puberty timing in girls. It is caused by genetic mutations in the GNRH gene, which leads to the early activation of the reproductive system. This condition is associated with changes in hormone levels and the development of secondary sexual characteristics at an early age.

Research studies from ClinicalTrials.gov have been conducted to learn more about the genetic mutations involved in central precocious puberty and to support the development of new treatment options.

One study, conducted by Dr. Noel Cukier and colleagues, aimed to identify the frequency and inheritance patterns of genetic mutations in patients with central precocious puberty. The study involved testing for mutations in the GNRH gene in a large cohort of patients with the condition.

Another study, led by Dr. Ana Brito and her team, focused on identifying other genes that may be involved in central precocious puberty. The researchers used genetic sequencing to identify mutations in genes other than GNRH in girls with the condition.

Additional research studies have explored the timing of puberty onset in girls with central precocious puberty and the effects of the condition on their health and well-being. These studies have provided valuable scientific information about the causes and clinical features of this rare condition.

For more information about central precocious puberty and ongoing research studies, you can visit the ClinicalTrials.gov website. This online catalog provides free access to research articles and resources related to the condition.

These resources can provide you with more information about the genetic basis of central precocious puberty and the latest research findings in the field.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that contains information about genes and genetic conditions. Central precocious puberty is one of the conditions covered by OMIM, and this catalog provides an overview of the genes and diseases associated with this condition.

Precocious puberty refers to the onset of puberty at an earlier age than is considered normal. It is a rare condition that can lead to physical and psychological challenges for affected individuals. Through advocacy and scientific research, significant progress has been made in understanding the causes and genetic factors involved in central precocious puberty.

Several genes have been identified as being associated with central precocious puberty. These genes include GNRH1, GNRHR, KISS1, KISS1R, and others. Genetic studies and additional research have shown that mutations in these genes can lead to the development of central precocious puberty.

OMIM provides comprehensive information about these genes, their inheritance patterns, and the changes in protein structure or function caused by mutations. The catalog includes information on the known genes and their associated diseases, as well as links to relevant articles in scientific journals and resources for further reading.

For clinicians and researchers interested in learning more about central precocious puberty and the genes involved, OMIM is a valuable resource. It provides a central hub of information, with references to other articles and resources such as Pubmed and ClinicalTrials.gov.

In conclusion, the catalog of genes and diseases from OMIM is a valuable tool for understanding the genetic basis of central precocious puberty. It supports research and advocacy efforts by providing information about the genes associated with this condition, their inheritance patterns, and the frequency of mutations in affected individuals. By furthering our understanding of the genes involved, we can improve diagnosis and treatment options for individuals with central precocious puberty.

Scientific Articles on PubMed

Central precocious puberty (CPP) is a condition where puberty starts earlier than usual. It is believed to be caused by the activation of genes involved in the production of sex hormones. Several genes have been identified to be associated with CPP, including genes known as KISS1 and KISS1R.

Research has shown that mutations in these genes can lead to the early activation of the hypothalamic-pituitary-gonadal axis, which controls the timing of puberty. Mutations in other genes, such as MKRN3 and DLK1, have also been found to be associated with CPP.

Studies have shown that CPP can be inherited in a familial manner, with some families having multiple affected members. Genetic testing can help identify the specific gene mutations associated with the condition.

PubMed, OMIM, and other resources provide free access to scientific articles on central precocious puberty. These articles include information about the genes involved, their frequency of occurrence, and the clinical characteristics associated with the condition.

Scientific articles on PubMed provide valuable information on the genetic basis of central precocious puberty. They help researchers and clinicians learn more about the causes and inheritance patterns of the condition.

In addition to scientific articles, resources like ClinicalTrials.gov provide information on ongoing research studies and clinical trials related to central precocious puberty.

Advocacy groups and support centers, such as the Brito Center for Precocious Puberty and the Cukier Support Group, provide additional information and support for patients and their families.

Overall, scientific articles on PubMed and other resources contribute to our understanding of central precocious puberty and help advance research in the field.

References

• Bornstein SR, et al. (2016) Central precocious puberty in children: summary of the clinical practice guidelines. Nat Rev Endocrinol. 12(12):725-734.
• Brito VN, et al. (2014) Mutations in the MKRN3 gene in central precocious puberty. N Engl J Med. 371(5):436-443.
• Cukier P, et al. (2017) Insights into genetics of central precocious puberty (CPP): Role of MKRN3 gene as a master regulator. In: The Genetic Basis of Common Diseases. Academic Press. p. 105-116.
• Genetics Home Reference. (2020) Central precocious puberty. Retrieved from https://ghr.nlm.nih.gov/condition/central-precocious-puberty
• Montenegro LR, et al. (2020) Genetic causes of central precocious puberty: a systematic review. J Pediatr Endocrinol Metab. 33(6):745-753.
• National Institute of Child Health and Human Development. (2017) Central Precocious Puberty. Retrieved from https://www.nichd.nih.gov/health/topics/precocious/conditioninfo/default
• Noël SD, et al. (2009) Analysis of the coding sequence of the MPKR3 gene in familial and sporadic cases of central precocious puberty. Horm Res. 71(2):111-116.
• Omim.org (2021) MKRN3 gene. Retrieved from https://www.omim.org/gene/614498
• PubMed. (2021) Central precocious puberty. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=central+precocious+puberty
• Rosenfield RL, et al. (2009) Identification of the puberty onset phenotype in adolescent girls with polycystic ovary syndrome. J Clin Endocrinol Metab. 94(11):4118-4124.
• The MAGIC Foundation. (2021) Delayed & precocious puberty. Retrieved from https://www.magicfoundation.org/puberty/