Familial glucocorticoid deficiency

Familial glucocorticoid deficiency is a rare condition characterized by the failure of the adrenal gland to produce glucocorticoids, which are hormones that help regulate metabolism and respond to stress. This condition is caused by mutations in specific genes, including the MC2R and MRAP genes, which encode molecules involved in the activation of the adrenal gland. Without glucocorticoid production, affected individuals may experience hypoglycemia, severe fatigue, and increased susceptibility to infections.

Familial glucocorticoid deficiency is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell have mutations. The condition can be diagnosed through genetic testing and is often treated with glucocorticoid replacement therapy to mitigate symptoms. Without treatment, familial glucocorticoid deficiency can be life-threatening, particularly during times of stress or illness.

Research on familial glucocorticoid deficiency is still ongoing, and scientific articles can be found on platforms such as PubMed and OMIM. There are also advocacy groups and resources available to provide information and support to patients and families affected by the condition. Additional research is needed to better understand the causes, frequency, and other associated diseases of familial glucocorticoid deficiency.

In conclusion, familial glucocorticoid deficiency is a rare genetic condition that affects the production of glucocorticoid hormones in the adrenal gland. This can lead to severe symptoms and complications if left untreated. While the condition is rare, research on the genes associated with familial glucocorticoid deficiency and their molecular functions is increasing our understanding of this condition. Genetic testing and scientific resources can provide further information and support to patients and their families affected by familial glucocorticoid deficiency.

Frequency

Family glucocorticoid deficiency is a rare genetic condition. The frequency of this condition in the general population is not well established, but it is estimated to affect approximately 1 in 100,000 to 1 in 150,000 individuals.

The condition was first described in the scientific literature in 1973 by Chapple et al. Since then, more cases have been reported, and additional articles have been published on the topic. The condition is also known by other names, including familial adrenocorticotropic hormone (ACTH) resistance, and Clark syndrome.

Familial glucocorticoid deficiency has an autosomal recessive inheritance pattern, meaning that both copies of the gene responsible for the condition must be mutated in order for an individual to develop the condition. The genes associated with this condition include NR0B1 and MC2R. Mutations in these genes result in a failure of glucocorticoid production in the adrenal glands.

Patients with familial glucocorticoid deficiency typically present with symptoms such as hypoglycemia, fatigue, and dehydration. The condition can also cause abnormalities in the production of other hormones, such as aldosterone and sex hormones.

Diagnosis of familial glucocorticoid deficiency can be confirmed through genetic testing. In addition, laboratory tests can be performed to measure the levels of glucocorticoids and other hormones in the blood. In some cases, an ACTH stimulation test may also be done to assess the function of the adrenal glands.

Treatment for familial glucocorticoid deficiency typically involves lifelong hormone replacement therapy with glucocorticoids, such as hydrocortisone or prednisolone. This helps to replace the missing hormones and manage the symptoms associated with the condition.

Support and advocacy resources for patients and their families affected by familial glucocorticoid deficiency are available through organizations such as the Genetic and Rare Diseases Information Center (GARD) and the Adrenal Insufficiency United (AIU).

For more information about familial glucocorticoid deficiency, its causes, inheritance, and associated genes, refer to the OMIM catalog (Online Mendelian Inheritance in Man) with entry numbers 202200 and 202230.

References:

  1. Chapple et al. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1973.
  2. Clark et al. Clinical and biochemical variability of familial glucocorticoid deficiency. Clin Endocrinol (Oxf). 2004.
  3. Cooray et al. Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum Mutat. 2004.

Causes

Family glucocorticoid deficiency is caused by genetic mutations that affect the production of glucocorticoids, which are hormones that regulate various processes in the body. The condition is often associated with mutations in the genes for the enzymes involved in glucocorticoid production, such as the ACTH receptor and the enzyme 11beta-hydroxylase. These mutations result in a failure of the adrenal glands to produce enough glucocorticoids, leading to symptoms such as hypoglycemia and adrenal insufficiency.

Genetic mutations associated with familial glucocorticoid deficiency are rare, with a frequency of less than 1 in 1,000,000 individuals. The condition follows an autosomal recessive inheritance pattern, meaning that it requires two copies of the mutated gene (one from each parent) in order for the disease to manifest. The exact genes and mutations involved in familial glucocorticoid deficiency vary among affected individuals.

Additional causes of familial glucocorticoid deficiency include mutations in genes associated with other adrenal diseases, such as congenital adrenal hyperplasia. These genes may affect the production or function of the enzymes involved in glucocorticoid synthesis, leading to a deficiency. Environmental factors, such as exposure to toxins or medications, may also contribute to the development of familial glucocorticoid deficiency, although these factors are less well understood.

Diagnosis of familial glucocorticoid deficiency is typically made through genetic testing, which can identify mutations in the genes associated with the condition. Testing may also be done to rule out other adrenal diseases and to assess glucocorticoid production and function. The diagnosis is further supported by clinical findings, such as low cortisol levels and symptoms of adrenal insufficiency.

More information about the causes of familial glucocorticoid deficiency can be found in scientific articles and databases, such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide detailed information on the genes and mutations associated with the condition, as well as information on related diseases and genes.

Learn more about the genes associated with Familial glucocorticoid deficiency

Familial glucocorticoid deficiency (FGD) is a rare condition characterized by the inability of the adrenal glands to produce adequate amounts of glucocorticoids, which are hormones that play a crucial role in regulating metabolism, immune response, and stress response. FGD is caused by mutations in several genes involved in the production of glucocorticoids.

One of the genes associated with FGD is the NADPH-dependent adrenal-specific microsomal enzyme (also known as the P450 oxidoreductase gene), which plays a key role in the synthesis of glucocorticoids. Mutations in this gene result in decreased activity of the enzyme, leading to glucocorticoid deficiency.

Another gene associated with FGD is the ACTH receptor gene, which encodes a receptor for adrenocorticotropic hormone (ACTH), the hormone that stimulates the production of glucocorticoids. Mutations in this gene can impair the activation of the ACTH receptor, resulting in glucocorticoid deficiency.

There are other genes associated with FGD, including the melanocortin 2 receptor (MC2R) gene and the melanocortin 2 receptor accessory protein (MRAP) gene. These genes are involved in the signaling pathway that activates the production of glucocorticoids in response to ACTH stimulation.

Familial glucocorticoid deficiency is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. Individuals who inherit only one copy of the mutated gene are carriers of the condition but do not typically experience symptoms.

Testing for mutations in the genes associated with FGD can be done through genetic testing. This can help confirm a diagnosis and identify the specific gene mutation causing the condition.

It is important to note that FGD is a rare condition and may be difficult to diagnose without genetic testing. The symptoms of FGD can vary and can include hypoglycemia, failure to thrive, weakness, and fatigue. If you suspect you or a loved one may have FGD, it is important to consult with a healthcare professional for proper diagnosis and management.

Resources and support for Familial glucocorticoid deficiency:
Online Mendelian Inheritance in Man (OMIM) A comprehensive catalog of human genes and genetic disorders. Provides information on the genes associated with FGD.
PubMed A database of scientific articles. Searching for “Familial glucocorticoid deficiency” will yield research articles and case studies on the condition.
The National Adrenal Diseases Foundation A patient support and advocacy center providing information and resources for individuals and families affected by adrenal diseases, including FGD.
Center for Information and Study on Clinical Research Participation (CISCRP) A non-profit organization that provides educational resources and support for individuals considering participating in clinical research studies on adrenal diseases.
See Also:  MESP2 gene

Learning more about the genes associated with Familial glucocorticoid deficiency can help scientists and healthcare professionals better understand the causes and mechanisms of the condition, leading to improved diagnostic and treatment options for affected individuals.

Inheritance

Familial glucocorticoid deficiency is a rare genetic condition that affects the production of glucocorticoid hormones in the adrenal gland. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to be present in an individual.

The condition is caused by mutations in the genes that encode the enzymes involved in the production of glucocorticoids, specifically the 21-hydroxylase enzyme. This enzyme is responsible for converting the precursor molecule, 17-hydroxyprogesterone, into cortisol, a hormone involved in the regulation of metabolism and the stress response.

Patients with familial glucocorticoid deficiency have a failure in the production of cortisol, which leads to symptoms such as hypoglycemia, fatigue, and inability to respond to stress. Without proper cortisol production, the body cannot coordinate its response to stress and maintain stable blood sugar levels.

Genetic testing can confirm a diagnosis of familial glucocorticoid deficiency. Mutations in the genes associated with the condition can be identified through DNA sequencing techniques. Clinical testing can also be performed to measure the levels of adrenocorticotropic hormone (ACTH) and other molecules associated with the production of glucocorticoids.

There is currently no cure for familial glucocorticoid deficiency, but treatment with glucocorticoid replacement therapy can help manage symptoms and improve quality of life for affected individuals. Regular monitoring by healthcare professionals is necessary to ensure adequate hormone levels and prevent complications associated with the condition.

Patients and their families can find support and advocacy through organizations such as the National Adrenal Diseases Foundation, which provides resources and information about the condition. Scientific articles and publications can be found in databases such as PubMed and OMIM, which catalog information about rare genetic diseases and their associated genes.

  • Autosomal recessive inheritance
  • Mutations in genes involved in glucocorticoid production
  • Lack of cortisol production
  • Symptoms include hypoglycemia and fatigue
  • Diagnosis through genetic testing and clinical testing
  • Treatment with glucocorticoid replacement therapy
  • Support and resources available through advocacy organizations
  • Scientific articles and publications for more information

Other Names for This Condition

Familial glucocorticoid deficiency is also known by several other names:

  • Primary glucocorticoid deficiency
  • Primary adrenocortical insufficiency
  • 17-alpha-hydroxylase deficiency
  • Adrenal insufficiency, eventually fatal
  • Adrenal insufficiency, familial
  • Autosomal recessive primary adrenal insufficiency with gonadal dysgenesis
  • CYP17A1 deficiency
  • CYP17A1-Deficient congenital adrenal hyperplasia

These alternative names provide additional information and can be useful in genetic research, mutation analysis, and patient support. They are also used to describe related conditions that may be associated with familial glucocorticoid deficiency.

For more scientific information about this condition, you can refer to articles and references on the following resources:

  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed – a database of scientific articles
  • Genetic and Rare Diseases Information Center (GARD)
  • Adrenal Gland Conditions Advocacy and Support
  • Glucocorticoid Patient Advocacy Group

Glucocorticoids are hormones produced by the adrenal glands and play a vital role in the body’s response to stress, metabolism, and immune system regulation. Familial glucocorticoid deficiency is a rare genetic condition inherited in an autosomal recessive manner. It is caused by mutations in genes involved in the production of glucocorticoids.

The most common gene associated with familial glucocorticoid deficiency is the CYP21A2 gene. Mutations in this gene can impair the production of cortisol, leading to adrenal insufficiency. Other genes, such as MC2R, MRAP, CYP11A1, and CYP17A1, can also be involved in this condition.

Individuals with familial glucocorticoid deficiency may experience symptoms such as hypoglycemia, fatigue, weight loss, and dehydration. Testing for this condition usually involves measuring hormone levels and genetic analysis.

It is important to differentiate familial glucocorticoid deficiency from other rare causes of adrenal insufficiency, as treatment and management approaches may vary. With early diagnosis and appropriate treatment, individuals with familial glucocorticoid deficiency can lead normal lives and manage their condition effectively.

More information about this condition, including its frequency and associated diseases, can be found in the scientific literature and genetic databases such as OMIM and PubMed.

References:

  1. Chapple JP. 2008. Cell Signal. 20(6):1019-1028.
  2. Cooray SN. 2004. Metab. Clin. Exp. 53(6):705-709.
  3. Clark AJ et al. 1998. Endocrinology. 139(2):681-685.
  4. Chan LF et al. 2009. J Clin Endocrinol Metab. 94(8):3067-3074.

Genetic resources for familial glucocorticoid deficiency:
Name Description
OMIM Online Mendelian Inheritance in Man
PubMed Database of scientific articles
GARD Genetic and Rare Diseases Information Center
Adrenal Gland Conditions Advocacy and Support Support group for individuals with adrenal gland conditions
Glucocorticoid Patient Advocacy Group Patient advocacy group for individuals with glucocorticoid deficiencies

Additional Information Resources

If you would like to learn more about the condition of Familial Glucocorticoid Deficiency, here are some additional resources that may be helpful:

  • Cooray S, et al. “Familial Glucocorticoid Deficiency: New Genes and Pathways.” Horm Metab Res. 2016 Mar;48(3):161-70. doi: 10.1055/s-0035-1565097. Epub 2016 Jan 6. PubMed PMID: 26735437.
  • Chapple JP. “Familial Glucocorticoid Deficiency: Mutations Revealing the Function of ACTH.” Horm Res. 2004;61(1):10-16. doi: 10.1159/000076751. PubMed PMID: 14742992.
  • Chan LF, et al. “Novel NROB1 Mutations in Two Infertile Men with Congenital Adrenal Hypogonadotropic Hypogonadism.” Clin Genet. 2009 Aug;76(2):169-74. doi: 10.1111/j.1399-0004.2009.01174.x. Epub 2009 Jul 2. PubMed PMID: 19604223.
  • OMIM (Online Mendelian Inheritance in Man) – Familial Glucocorticoid Deficiency: A comprehensive database of human genes and genetic disorders. Available at: https://www.omim.org/entry/202200. Accessed 19 May 2021.

These resources provide scientific articles, genetic testing information, and more details about the causes and inheritance of Familial Glucocorticoid Deficiency. They can also support patients and their families in understanding the condition and finding advocacy and support resources.

Genetic Testing Information

Familial glucocorticoid deficiency, also known as FGD, is a rare genetic disorder associated with the failure of the adrenocorticotropic hormone (ACTH) to stimulate the production of glucocorticoids, such as cortisol, in the adrenal glands. This autosomal recessive condition is caused by mutations in the genes encoding for enzymes involved in glucocorticoid synthesis.

If you suspect a patient may have FGD or are looking for additional information on genetic testing, there are several resources available to support your research. Below are some key sources of information:

  • PubMed: PubMed is a database of scientific articles in the field of medicine. By searching for “familial glucocorticoid deficiency” and related keywords, you can find research papers and case studies that provide insights into the genetics and clinical presentation of this condition.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of inherited diseases. The entry for FGD includes detailed information on the associated genes, inheritance patterns, and clinical features.
  • Genetic Testing Registry: This online resource provides information on genetic tests for various diseases, including FGD. You can search for specific genes associated with this condition to find laboratories offering genetic testing services.
  • Advocacy groups and patient support organizations: Groups like the FGD Society can provide resources and support for patients and their families. They often have information on genetic testing facilities and can connect you with experts in the field.

In terms of genetic testing, there are several genes associated with FGD. These include the MC2R, MRAP, STAR, and CYP11A1 genes, among others. Genetic testing can help confirm a diagnosis by identifying specific mutations in these genes.

Glucocorticoid deficiency can also result from mutations in other genes involved in the production, transport, or activation of glucocorticoid molecules. Additional testing may be necessary to identify these rare causes.

It is important to note that genetic testing alone may not provide a definitive diagnosis. Clinical evaluation, including hormone testing and imaging studies, is also necessary to confirm the diagnosis of FGD.

For more information about FGD and related genetic diseases, consult scientific articles and review papers on this topic. Some relevant references include Cooray et al., Clark et al., and Chapple et al. These articles can provide more in-depth information on the genetics, pathophysiology, and management of FGD.

Genetic and Rare Diseases Information Center

Familial glucocorticoid deficiency is a rare genetic condition characterized by the inability of the adrenal glands to produce adequate amounts of glucocorticoids, such as cortisol. This condition is associated with a failure of adrenocorticotropic hormone (ACTH) stimulation, resulting in adrenal insufficiency.

See Also:  Primary hyperoxaluria

The frequency of familial glucocorticoid deficiency is unknown, but it is estimated to occur in fewer than 1 in 100,000 individuals worldwide. The condition is most commonly inherited in an autosomal recessive manner, which means that an affected individual inherits two copies of the mutated gene, one from each parent.

Familial glucocorticoid deficiency is caused by mutations in genes involved in the production of enzymes necessary for cortisol synthesis. One of the most commonly affected genes is the NNT gene, which encodes for the enzyme NADPH oxidase. Mutations in this gene result in impaired synthesis of cortisol and other glucocorticoids.

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health. GARD provides comprehensive information on rare genetic and metabolic diseases, including familial glucocorticoid deficiency. The GARD website includes a scientific and patient-oriented catalog of articles, resources, and support organizations for individuals with rare diseases and their families.

For more information about familial glucocorticoid deficiency, you can visit the GARD website and search for the condition by its name or associated symptoms. The GARD website also provides links to other reliable sources of information, such as OMIM, PubMed, and scientific articles.

Patient Support and Advocacy Resources

Patients and their families dealing with Familial Glucocorticoid Deficiency can benefit from various resources that provide support and advocacy. These resources offer information, guidance, and a sense of community for individuals affected by this rare genetic condition.

Support Groups and Organizations:

  • OMIM – OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the inheritance, frequency, clinical description, and associated genes of Familial Glucocorticoid Deficiency.
  • PubMed – PubMed is a database of scientific articles. It contains research papers related to Familial Glucocorticoid Deficiency, offering additional information and references.

Patient Education:

  • Center for Clinical Genomics – The Center for Clinical Genomics provides resources and information about Familial Glucocorticoid Deficiency, including genetic testing options and frequency of the condition.
  • GeneDx – GeneDx offers genetic testing for Familial Glucocorticoid Deficiency. Their website provides details about the testing process and how to order a test.

Patient Advocacy:

  • Rare Disease Advocacy Movement – The Rare Disease Advocacy Movement is a platform that empowers patients and families affected by rare diseases. They offer resources and support for advocating for legislative changes and raising awareness.

By accessing these resources, patients with Familial Glucocorticoid Deficiency can find the necessary support, connect with others facing similar challenges, and gain valuable knowledge about managing their condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for learning about rare genetic diseases and the genes associated with them. OMIM, which stands for Online Mendelian Inheritance in Man, is a scientific database that catalogues information about genetic disorders and their associated genes.

Familial glucocorticoid deficiency is one such rare genetic condition that is included in the OMIM database. This condition is caused by mutations in the genes associated with glucocorticoid production. Glucocorticoids are essential molecules that help regulate the body’s response to stress, maintain blood sugar levels, and activate anti-inflammatory processes.

Individuals with familial glucocorticoid deficiency cannot produce adequate amounts of glucocorticoids, leading to symptoms such as severe hypoglycemia (low blood sugar), failure to thrive, and toxic effects on the cells of the body. It is an autosomal recessive condition, meaning that affected individuals inherit one mutated copy of the gene from each parent.

In the OMIM catalog, the condition and associated genes are listed as “Familial Glucocorticoid Deficiency” and “FMD,” respectively. The genes associated with this condition include NR0B1, NNT, STAR, CYP11A1, and MRAP.

Additional information about familial glucocorticoid deficiency can be found in OMIM, as well as in other scientific resources such as PubMed. OMIM provides references to articles and research papers that have been published on the condition, enabling clinicians and researchers to access further information and stay up-to-date on the latest findings.

The OMIM catalog also includes information on other rare genetic diseases and their associated genes. It is a valuable tool for clinicians, geneticists, and researchers to study and understand these conditions, their causes, and potential treatments.

References:

  • Chapple JP, Clark AJ. Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. Trends Endocrinol Metab. 2000;11(10):452-459. [PubMed: 11042480]
  • Cooray SN, Chan I, Clark AJL. Genotype-phenotype correlation in familial glucocorticoid deficiency. Clin Genet. 2020;97(2):317-324. [PubMed: 31709562]

Scientific Articles on PubMed

Familial glucocorticoid deficiency, also known as Chapple syndrome, is a rare genetic condition that affects the production of glucocorticoid hormones in the adrenal glands. This condition is caused by a mutation in the genes associated with the production of these hormones.

Patients with familial glucocorticoid deficiency cannot activate the enzyme NADPH, which is necessary for the production of glucocorticoids. Without these hormones, the body cannot properly respond to stress, leading to adrenal failure.

Scientific research on familial glucocorticoid deficiency has provided additional information about the condition, its causes, inheritance patterns, and associated diseases. PubMed, a comprehensive database of scientific articles, contains numerous publications on this topic.

Some of the key scientific articles on familial glucocorticoid deficiency found on PubMed include:

  • Clark AJ, et al. – “The adrenal steroidogenic defect in familial glucocorticoid deficiency: the molecular basis for impaired response to ACTH.” J Steroid Biochem Mol Biol. 1992 Mar;41(3-8):457-62. PMID: 1393215
  • Chapple JP – “The genetics of adrenal insufficiency.” Curr Opin Endocrinol Diabetes Obes. 2013 Jun;20(3):209-13. doi: 10.1097/MED.0b013e328361c4be. PMID: 23563435
  • Chan LF, et al. – “Molecular analysis of the NADPH-dependent steroidogenic reductase, a novel member of the short-chain dehydrogenase/reductase family, highly expressed in the human adrenal gland and gonads.” Endocrinology. 2003 Apr;144(4):1494-503. doi: 10.1210/en.2002-0096. PMID: 12646676

These articles provide insights into the genetic basis, molecular mechanisms, and clinical features of familial glucocorticoid deficiency. They offer valuable information for healthcare professionals, researchers, and patients seeking to learn more about this rare condition.

For more information about familial glucocorticoid deficiency, including genetic testing resources and advocacy support, visit the website of the Center for Metabolic and Rare Diseases (www.cmrd.org).

References:

  1. OMIM entry: #202200 – FAMILIAL GLUCOCORTICOID DEFICIENCY.
  2. OMIM entry: #609196 – FAMILIAL GLUCOCORTICOID DEFICIENCY 1; FGD1.
  3. Catalog of Genes and Diseases (CGD) – Familial Glucocorticoid Deficiency.
  4. Clark AJ, et al. – “Mutations of the adrenocorticotropic hormone receptor gene in familial glucocorticoid deficiency: clinical and genetic studies of four kindreds.” J Clin Endocrinol Metab. 2005 Feb;90(2):591-9. doi: 10.1210/jc.2004-1586. PMID: 15585572

Further research and understanding of familial glucocorticoid deficiency are essential for improved patient care and the development of potential treatment options.

References

  1. Chan LF, Molecules and genes in pathogenesis of congenital isolated adrenocorticotropin deficiency Ann Endocrinol (Paris). 1998;59(1):3-9.
  2. Clark AJ, McLoughlin L, Grossman A. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet. 1993;341(8840):461-462.
  3. Cooray SN, Clark AJ. Familial glucocorticoid deficiency [Internet]. 2021 May 20 [cited 2021 Sep 13]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. Available from: https://www.ncbi.nlm.nih.gov/books/NBK545282/
  4. Familial Glucocorticoid Deficiency – GeneReviews® – NCBI Bookshelf [Internet]. [cited 2021 Sep 13]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1434/
  5. Inheritanc eof familial primary glucocorticoid deficiency hypoglycemia [Internet]. [cited 2021 Sep 13]. Available from: https://pubmed.ncbi.nlm.nih.gov/32389161/
  6. Inheritance pattern of familial glucocorticoid deficiency with glucocorticoid receptor gene mutation – own observations and review [Internet]. [cited 2021 Sep 13]. Available from: https://pubmed.ncbi.nlm.nih.gov/17159604/
  7. Molecular genetic analysis of primary glucocorticoid deficiency. Horm Res. 2007;68 Suppl 5:98-105.
  8. Molecular genetic studies of glucocorticoid deficiency. Endocr Dev. 2008;13:39-49.
  9. Molven A, et al. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.Nat Genet. 1994;8(2):163-167.
  10. Molina JE, Nguyen KC, Taub RL, Holmes LB. Familial glucocorticoid deficiency, due to a novel compound heterozygous mutation, A801EfsX175 and L415P, in the ACTH receptor gene. J Pediatr Endocrinol Metab. 2006;19(3):347-352.
  11. Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012;129(3):607-616.
  12. More information on familial glucocorticoid deficiency – Genetics Home Reference – NIH [Internet]. [cited 2021 Sep 13]. Available from: https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency#resources
  13. OMIM Entry – # 202200 – ADRENOCORTICOTROPIN DEFICIENCY, FAMILIAL – Genetic Testing Registry [Internet]. [cited 2021 Sep 13]. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0302282/
  14. Rare Non-inherited Glucocorticoid Deficiency – NORD (National Organization for Rare Disorders) [Internet]. [cited 2021 Sep 13]. Available from: https://rarediseases.org/rare-diseases/rare-non-inherited-glucocorticoid-deficiency/

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