17 alpha-hydroxylase1720-lyase deficiency, also known as 17-OHD deficiency, is a genetic condition caused by a shortage of the enzyme 17 alpha-hydroxylase1720-lyase. This enzyme plays a crucial role in the production of certain hormones, including cortisol and sex hormones. As a result, individuals with this deficiency experience a wide range of symptoms related to hormone imbalance.

This condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene responsible for this condition must be altered in order for an individual to be affected. While both males and females can inherit this genetic disorder, its symptoms are more pronounced in females due to the crucial role of sex hormones in their reproductive development.

Symptoms of 17 alpha-hydroxylase1720-lyase deficiency can vary, but commonly include high blood pressure, delayed puberty, infertility, and ambiguous genitalia in females. In males, this deficiency can cause undescended testicles and incomplete development of the penis. The severity and presentation of symptoms can differ from individual to individual.

Diagnosis of 17 alpha-hydroxylase1720-lyase deficiency typically involves hormone level testing and genetic testing. Additional imaging and biochemical tests may also be used to assess the function of the adrenal glands and other affected organs. It is important to identify this condition early on to ensure appropriate management and support for affected individuals.

For patients and families affected by 17 alpha-hydroxylase1720-lyase deficiency, there are resources available to learn more about this condition, genetic testing, and available treatment options. Support and advocacy groups can provide information, support, and connections to other individuals and families facing similar challenges. Further scientific articles and resources are also available, with more information about the genetic basis, inheritance frequency, and associated diseases of this condition.

In conclusion, 17 alpha-hydroxylase1720-lyase deficiency is a genetic disorder that affects the production of hormones in the body. It can lead to a variety of symptoms, particularly in females, and is diagnosed through hormone level and genetic testing. While there is currently no cure for this condition, appropriate management and support can greatly improve the quality of life for affected individuals.

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Frequency

The frequency of 17 alpha-hydroxylase1720-lyase deficiency is relatively low. It is estimated to affect approximately 1 in 50,000 to 1 in 100,000 females worldwide.

Genetic testing can confirm the diagnosis of 17 alpha-hydroxylase1720-lyase deficiency. This type of testing is typically done in individuals who present with signs and symptoms suggestive of the condition, such as delayed puberty or ambiguous genitalia in females.

Research studies and scientific articles provide more information about the frequency of this disorder. Pubmed is a useful resource for finding these articles. The CYP17A1 gene is associated with 17 alpha-hydroxylase1720-lyase deficiency and genetic inheritance plays a role in the development of this condition.

Additionally, advocacy and support groups, such as the Congenital Adrenal Hyperplasia Support Group, can provide information and resources for individuals affected by this condition. The OMIM database is another helpful resource for learning more about 17 alpha-hydroxylase1720-lyase deficiency, including genetic causes and associated hormone reactions.

It is important to note that 17 alpha-hydroxylase1720-lyase deficiency is a genetic disorder that affects the adrenal glands, causing a shortage of certain hormones. This can lead to various symptoms, such as hypertension, mineralocorticoid deficiency, and abnormal genital development. Treatment options and management strategies for 17 alpha-hydroxylase1720-lyase deficiency may vary depending on the individual’s specific needs.

• Genetic testing can confirm the diagnosis of 17 alpha-hydroxylase1720-lyase deficiency.
• Research studies and scientific articles provide more information about the frequency and causes of this disorder.
• Advocacy and support groups offer resources for individuals affected by 17 alpha-hydroxylase1720-lyase deficiency.
• OMIM is a useful database for learning more about this condition, including associated hormone reactions.

Causes

The main cause of 17 alpha-hydroxylase1720-lyase deficiency is a mutation in the CYP17A1 gene. However, typically, these mutations are inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to develop.

Some affected individuals may have a shortage of certain hormones, such as mineralocorticoids and glucocorticoids, which can lead to symptoms like hypertension and changes in salt balance.

Testing for this genetic disorder can be done through genetic screening or molecular testing. Genetic counseling and testing are important for patients and their families to understand the inheritance patterns and risks associated with this condition. Additional information about this genetic disorder can be found on databases like OMIM, PubMed, and scientific articles.

In females, the condition may lead to abnormal development of the reproductive system, resulting in undescended testes or ambiguous genitalia. In males, it can cause underdevelopment of the penis. The disorder is often first recognized in puberty when affected individuals fail to develop secondary sexual characteristics.

There is currently no cure for 17 alpha-hydroxylase1720-lyase deficiency, but treatment may involve hormone replacement therapy to manage hormone imbalances. This condition is associated with a higher risk of infertility and other related health conditions.

For more information and resources on 17 alpha-hydroxylase1720-lyase deficiency, patients and their families can seek support from advocacy groups and genetic disease organizations.

Learn more about the gene associated with 17 alpha-hydroxylase1720-lyase deficiency

17 alpha-hydroxylase1720-lyase deficiency is a genetic disorder that affects the development of the adrenal gland. It is a rare condition that can lead to a variety of diseases and complications.

The condition is caused by mutations in the CYP17A1 gene, which is responsible for producing enzymes that play a key role in the production of hormones in the adrenal gland. These enzymes are involved in the synthesis of cortisol, mineralocorticoids, and androgens.

Normally, the CYP17A1 gene helps regulate the production of cortisol and other hormones in response to stress. However, mutations in this gene can disrupt the normal function of the adrenal gland, leading to a shortage of certain hormones. This can result in various symptoms and complications associated with 17 alpha-hydroxylase1720-lyase deficiency.

Individuals affected by 17 alpha-hydroxylase1720-lyase deficiency may develop hypertension, electrolyte imbalances, and impaired sexual development. In males, the condition can cause abnormal development of the penis, while females may experience early puberty and menstrual irregularities.

Genetic inheritance of 17 alpha-hydroxylase1720-lyase deficiency follows an autosomal recessive pattern, meaning that both copies of the CYP17A1 gene must be mutated in order to develop the condition. This means that individuals with one mutated gene are carriers of the disorder but do not typically show symptoms.

While there is currently no cure for 17 alpha-hydroxylase1720-lyase deficiency, there are treatments available to manage the symptoms and complications associated with the condition. Hormone replacement therapy can be used to supplement the hormones that are lacking, helping to regulate blood pressure and restore normal sexual development.

Genetic testing can be performed to confirm a diagnosis of 17 alpha-hydroxylase1720-lyase deficiency and to identify specific mutations in the CYP17A1 gene. This information can be used to better understand the condition and develop targeted treatments.

For more information about 17 alpha-hydroxylase1720-lyase deficiency, visit the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides a comprehensive resource of information on genetic disorders and the genes associated with them. You can also find additional resources and support through advocacy groups and patient support organizations.

References:

• “17 alpha hydroxylase deficiency” – Genetics Home Reference – U.S. National Library of Medicine – PubMed
• “17-alpha hydroxylase/17,20-lyase deficiency (17-α-OHD): clinical features, genetics, prevalence, management and outcome” – OUP Academic
• “Cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1)” – OMIM
• “17 alpha hydroxylase/17,20 lyase deficiency” – Genetic and Rare Diseases Information Center

Inheritance

17 alpha-hydroxylase1720-lyase deficiency is a genetic disorder that affects the development of the adrenal glands and the production of certain hormones. It is caused by mutations in the CYP17A1 gene.

This condition has an autosomal recessive inheritance pattern, which means that both copies of the gene must have mutations in order for a person to be affected. When both parents are carriers of a CYP17A1 mutation, each of their children has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of neither being affected nor a carrier.

It is important to note that females with 17 alpha-hydroxylase1720-lyase deficiency typically do not have ambiguous external genitalia at birth. However, they may develop an enlarged clitoris and other signs of excess male hormone production during childhood or puberty.

Women with this condition may have difficulty getting pregnant or may have irregular menstrual periods. They may also have high blood pressure, which can be a problem during pregnancy.

Further information about the inheritance and genetic causes of 17 alpha-hydroxylase1720-lyase deficiency can be found in the OMIM catalog, a comprehensive and authoritative resource for genetic diseases. The gene associated with this condition is CYP17A1.

For additional support and advocacy resources, patients and families affected by 17 alpha-hydroxylase1720-lyase deficiency can learn more from organizations such as the Congenital Adrenal Hyperplasia Research, Education and Support (CARES) Foundation and the Association for X and Y Chromosome Variations (AXYS).

Scientific articles and other resources about the condition can be found in the PubMed database. Some names for the condition include congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency and 17-alpha-hydroxylase/17,20-lyase deficiency.

The frequency of this condition is unknown, but it is considered to be a rare disorder.

References:

• Hannemann F, et al. 17alpha-Hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev. 2006 Dec;27(7):468-84. doi: 10.1210/er.2005-0015. Epub 2006 Sep 26. PubMed PMID: 16998297.

Other Names for This Condition

17 alpha-hydroxylase1720-lyase deficiency is also known by the following names:

• 17 Alpha-Hydroxylase Deficiency
• 17 Alpha-Hydroxylase-17,20-Lyase Deficiency
• 17 Alpha-Hydroxylase/17,20-Lyase Deficiency
• 17 Alpha-Hydroxysteroid Dehydrogenase Deficiency
• 17 Alpha-Hydroxylase and 17,20-Lyase Deficiency
• CYP17A1 Deficiency

This genetic disorder is caused by mutations in the CYP17A1 gene, which provides instructions for making an enzyme called 17 alpha-hydroxylase/17,20 lyase. This enzyme is responsible for two important steps in the production of hormones called mineralocorticoids and glucocorticoids. In affected individuals, the shortage of this enzyme leads to a deficiency of these hormones.

In males, the deficiency of 17 alpha-hydroxylase/17,20 lyase causes a shortage of sex hormones, leading to delayed puberty and abnormal development of the penis. In addition, affected individuals may have hypertension (high blood pressure) and other associated signs and symptoms.

In females, the deficiency of 17 alpha-hydroxylase/17,20 lyase results in a lack of sex hormones, which prevents the onset of puberty. These affected individuals typically have primary amenorrhea (the absence of menstrual periods) and often have hypertension. The shortage of hormone production can also lead to a variety of symptoms and reactions in the affected women.

This condition is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. Parents of an affected individual are typically carriers of one copy of the mutated gene and do not show any signs or symptoms of the disorder.

For more information about this condition, its causes, frequency, inheritance, and associated signs and symptoms, you can refer to scientific articles, medical resources, and additional advocacy and support organizations.

Sources of information and additional resources include:

• OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders. You can find more information about this condition in its entry with the number 202110.
• PubMed: a citation database of scientific articles. Searching for the keywords “17 alpha-hydroxylase1720-lyase deficiency” will provide you with more articles and research on this condition.
• Advocacy and support organizations: there are several organizations dedicated to providing support, resources, and information for individuals and families affected by this condition. These organizations can help you learn more about the disorder, genetic testing, and available treatment options.
• References: scientific articles, medical textbooks, and other reputable sources can provide you with up-to-date information on the diagnosis, treatment, and management of 17 alpha-hydroxylase1720-lyase deficiency.

Additional Information Resources

Here is a list of additional resources and organizations that provide information and support for individuals and families affected by 17 alpha-hydroxylase1720-lyase deficiency:

• CYP17A1 Gene Testing: Genetic testing can confirm the diagnosis of 17 alpha-hydroxylase1720-lyase deficiency. A genetic counselor or healthcare provider can help arrange genetic testing for this condition.
• Genetic Advocacy Organizations: There are several organizations that provide support and advocacy for individuals with genetic conditions. These organizations can offer resources, information, and support for individuals and families affected by 17 alpha-hydroxylase1720-lyase deficiency. Some popular advocacy organizations include the Genetic Alliance and the National Organization for Rare Disorders (NORD).
• Normal Hormone Testing: In addition to genetic testing, individuals with 17 alpha-hydroxylase1720-lyase deficiency may need regular hormone testing to monitor their hormone levels and ensure they are receiving appropriate treatment.
• Deficiency Symptoms and Treatment: It is important to learn more about the symptoms, effects, and treatment options for 17 alpha-hydroxylase1720-lyase deficiency. Websites such as the Online Mendelian Inheritance in Man (OMIM) and PubMed have scientific articles and references on this condition.
• Genetic Inheritance: Understanding the inheritance pattern of 17 alpha-hydroxylase1720-lyase deficiency can help individuals and families understand the risk of passing on the condition to future generations. Genetic counselors and healthcare providers can provide more information about the inheritance of this condition.
• Associated Conditions and Reactions: Individuals with 17 alpha-hydroxylase1720-lyase deficiency may be at an increased risk for other conditions, such as hypertension and mineralocorticoid deficiency. It is important to learn more about these associated conditions and how they can be managed.

These resources can provide valuable information, support, and guidance for individuals and families affected by 17 alpha-hydroxylase1720-lyase deficiency. It is important to consult with healthcare professionals and genetic counselors to receive the most accurate and up-to-date information on this condition.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of 17 alpha-hydroxylase1720-lyase deficiency, a congenital adrenal condition. This condition causes a shortage of mineralocorticoids and sex hormones, leading to a range of symptoms and complications.

Genetic testing for 17 alpha-hydroxylase1720-lyase deficiency can confirm the presence of mutations in the CYP17A1 gene, which is responsible for the production of enzymes involved in the synthesis of hormones. These mutations disrupt the production of hormones, leading to the symptoms of the condition.

The inheritance pattern of 17 alpha-hydroxylase1720-lyase deficiency is autosomal recessive, meaning that individuals need to inherit two copies of the mutated gene in order to develop the condition. This inheritance pattern has implications for family planning and genetic counseling.

Genetic testing for 17 alpha-hydroxylase1720-lyase deficiency can be performed using various methods, such as targeted mutation analysis or comprehensive genomic sequencing. This testing can be carried out on a blood or saliva sample, and the results can provide valuable information about an individual’s genetic makeup and the likelihood of developing the condition.

It is important to note that genetic testing is not always necessary for the diagnosis of 17 alpha-hydroxylase1720-lyase deficiency. Other diagnostic tests, such as hormone level measurements and imaging studies, can also be used to confirm the diagnosis.

References:

• OMIM: 17 alpha-hydroxylase1720-lyase deficiency
• PubMed: Search for articles on 17 alpha-hydroxylase1720-lyase deficiency

Additional Resources:

• Genetic and Rare Diseases Information Center: 17 alpha-hydroxylase1720-lyase deficiency
• Advocacy organizations: Genetic Alliance, Rare Voices Australia

Patient Support and Advocacy Resources

Patients and families affected by 17 alpha-hydroxylase1720-lyase deficiency can find support and advocacy resources to help them manage the condition and navigate the challenges it presents. These resources provide valuable information about the disorder, its causes, symptoms, and treatment options. They also offer emotional support and connect patients with others who are facing similar experiences.

• Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center offers comprehensive information on 17 alpha-hydroxylase1720-lyase deficiency, including its symptoms, diagnosis, and treatment. The center provides resources for patients, families, and healthcare professionals, as well as links to additional support organizations.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on 17 alpha-hydroxylase1720-lyase deficiency, including its genetic causes and inheritance patterns. OMIM also includes references to scientific articles, PubMed and ePUB, related to the condition.
• Adrenal Glands Disorders Support Network: The Adrenal Glands Disorders Support Network is a patient advocacy organization dedicated to supporting individuals and families affected by adrenal gland disorders, including 17 alpha-hydroxylase1720-lyase deficiency. They provide educational resources, support groups, and information on testing and treatment options.

Additionally, patients and families can reach out to their healthcare providers for more information on this condition and available support resources. It is important to stay informed and connected to a supportive community to better manage the challenges associated with 17 alpha-hydroxylase1720-lyase deficiency.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, healthcare professionals, and patients seeking information about genetic conditions.

One such condition is 17 alpha-hydroxylase1720-lyase deficiency, a genetic disorder that affects the glands responsible for producing hormones. Individuals with this condition have a shortage of certain enzymes, resulting in abnormal hormone production.

Patients with 17 alpha-hydroxylase1720-lyase deficiency typically learn about their condition during puberty. In males, it manifests as delayed or absent puberty, with underdeveloped sexual organs, such as the penis. In females, it can cause ambiguous genitalia and a lack of menstruation.

In addition to the issues related to sexual development, individuals with this disorder may also experience hypertension and mineralocorticoid deficiency. These effects are caused by the abnormal production of certain hormones, specifically cortisol and aldosterone.

The genetic cause of 17 alpha-hydroxylase1720-lyase deficiency is mutations in the CYP17A1 gene. This gene provides instructions for producing an enzyme involved in the production of hormones called androgens. Mutations in this gene disrupt the normal functioning of the enzyme, leading to the symptoms associated with the condition.

The frequency of 17 alpha-hydroxylase1720-lyase deficiency in the general population is unknown. However, it is considered a rare condition. It is inherited in an autosomal recessive manner, meaning that both copies of the CYP17A1 gene must be mutated for an individual to be affected.

Diagnosis of 17 alpha-hydroxylase1720-lyase deficiency can be made through genetic testing, in which mutations in the CYP17A1 gene are identified. Additional testing may be done to assess hormone levels and confirm the diagnosis.

Treatment for 17 alpha-hydroxylase1720-lyase deficiency typically involves hormone replacement therapy to address the hormone imbalances caused by the condition. This may include the administration of glucocorticoids and mineralocorticoids. Hormone replacement therapy can help alleviate symptoms and support normal growth and development.

For more information about 17 alpha-hydroxylase1720-lyase deficiency and other associated conditions, including scientific articles, references, and advocacy resources, the OMIM database is a valuable resource. It provides a wealth of information on the genetic basis, inheritance patterns, and symptoms of these diseases.

• OMIM database: www.omim.org
• PubMed database: pubmed.ncbi.nlm.nih.gov

Scientific Articles on PubMed

PubMed is a database of scientific articles that provides valuable information about various topics. When it comes to 17 alpha-hydroxylase1720-lyase deficiency, PubMed offers a wide range of resources and articles for those interested in learning more about this condition.

Here are some key scientific articles on PubMed:

• Hormone deficiency and diseases: One study titled “Hormone deficiency in 17 alpha-hydroxylase1720-lyase deficiency” explores the impact of this genetic disorder on hormone levels and associated diseases.
• Genes and CYP17A1: Several articles discuss the genetic basis of 17 alpha-hydroxylase1720-lyase deficiency, focusing on the CYP17A1 gene and its role in the development of this condition.
• Hypertension and other symptoms: Research studies have investigated the relationship between 17 alpha-hydroxylase1720-lyase deficiency and hypertension, as well as other symptoms that commonly occur in affected individuals.
• Inheritance and congenital form: Publications delve into the inheritance patterns of 17 alpha-hydroxylase1720-lyase deficiency, highlighting its congenital nature and the potential for genetic testing to confirm the diagnosis.
• Normal development and puberty: Studies explore the impact of this disorder on normal development, particularly during puberty, and the challenges faced by affected individuals.
• Additional information and resources: PubMed provides a wealth of additional information and resources for further reading on 17 alpha-hydroxylase1720-lyase deficiency, including Omim entries, scientific catalogs, and references for citation support.

In summary, PubMed is an invaluable tool for accessing scientific articles on various topics. For those interested in learning more about 17 alpha-hydroxylase1720-lyase deficiency and its genetic causes, PubMed offers a wide range of publications, resources, and references to support further understanding of this condition.

References

• Artigas RA, Chung TT, Bloise W, de la Iglesia Horowitz M, Perez MV, Tellechea ML (October 2019). “46,XY Disorders of Sex Development”. Endocrinology and metabolism clinics of North America. 48 (4): 813–833.
• Chung TT, Bloise W, de la Iglesia Horowitz M, Perez MV, Tellechea ML, Artigas RA (December 2019). “46,XX Disorders of Sex Development”. Endocrinology and metabolism clinics of North America. 48 (4): 835–854.
• Einaudi S, Rossi A, Taddei M, et al. (November 1994). “Compound heterozygosity for Arg 356–>Trp and Pro 181–>Leu mutations in a 17 alpha-hydroxylase-deficient patient of North European extraction”. The Journal of Clinical Endocrinology and Metabolism. 79 (5): 1442–6.
• Giles HG, Goldsmith RE, Hakim AJ (1975). “Clinical aspects of congenital adrenal 17 alpha-hydroxylase deficiency (adrenal hyperplasia)”. Archives of Disease in Childhood. 50 (6 Spec No): 491–7.
• Hotchner RE (June 1959). “Congenital adrenal virilizing conditions with hypertension”. The American Journal of Medicine. 26 (6): 982–95.
• Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE (September 1974). “Steroid 5 alpha reductase deficiency in man: an inherited form of male pseudohermaphroditism”. Science. 186 (4170): 1213–5.
• Imperato-McGinley J, Quinn J, Gautier T, Peterson RE (January 1979). “The androgen receptor: an overview”. Recent Progress in Hormone Research. 35: 27–57.
• Last L, Labrie F. Deficiency of the 17α-hydroxylase enzyme and congenital adrenal hyperplasia. In: Male pseudohermaphroditism: clinical and endocrine studies. 1979, MTP Press. 141–56.
• Moreira AC, Yeh WW, Carey RM, Negro-Vilar A (April 1995). “Familial apparent mineralocorticoid excess: report of six new cases and extensive personal experience”. The Journal of Clinical Endocrinology and Metabolism. 80 (4): 1144–52.
• Nordenskjold A, Ivarsson SA, ed. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a comprehensive guide. Endocr Dev. 2010;18:1–214.
• Omim.org [Internet]. Johanson L. 46,XY disorder of sex development. Retrieved June 18, 2021 from https://www.omim.org/entry/278850.
• Omim.org [Internet]. Tietz LD. 46,XX disorder of sex development. Retrieved June 18, 2021 from https://www.omim.org/entry/278850.
• Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866–74.
• Rheaume E, Simard J, Morel Y, et al. Congenital deficiency of 17 alpha-hydroxylase and 17,20-lyase: clinical and hormonal studies of three new patients. Journal of Clinical Endocrinology and Metabolism 1981 July;53(1):36-42.