Materiały źródłowe

• #1 Orphanet: Congenital adrenal hyperplasia

  https://www.orpha.net/en/disease/detail/418

  A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity. […] The estimated prevalence is 1/10,000. Annual incidence ranges from 1/5,000 to 1/15,000. […] In most European countries there are newborn screening programs in place to diagnose CAH at birth.

• #2 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #3 Congenital Adrenal Hyperplasia | Concise Medical Knowledge

  https://www.lecturio.com/concepts/congenital-adrenal-hyperplasia/

  Most common cause of 46,XX genotypic female individuals with ambiguous or undetermined genitalia. […] Incidence of classical congenital adrenal hyperplasia worldwide: 1 in 15,000 live births. […] Genetic predisposition varies depending on ethnicity and geographic location. […] In the United States, prevalence greater for whites (1 in 15,000 live births) than African Americans (1 in 42,000 live births). […] Yupik in Alaska: 1 in 280 live births. […] White Europeans: 1 in 5,000 to 1 in 23,000 live births. […] Non-classical CAH predisposition: Whites: 1 in 100 to 1,000 live births. […] Prevalence amongst Ashkenazi Jews, Mediterraneans, and Hispanics.

• #4 Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment – PubMed

  https://pubmed.ncbi.nlm.nih.gov/11577925/

  Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a common disorder, and is characterised by a defect in cortisol biosynthesis with or without a defect in aldosterone synthesis and androgen excess. The classic form, also known as the severe form, occurs in 1:15,000 births worldwide, while the nonclassic or mild form occurs in approximately 1:1,000 births worldwide and is much more common (up to 1:20) in certain ethnic groups. […] Close clinical monitoring of growth and development is essential to optimise treatment outcome.

• #5 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #6 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #7 Congenital Adrenal Hyperplasia | Doctor

  https://patient.info/doctor/congenital-adrenal-hyperplasia-pro

  How common is congenital adrenal hyperplasia?(epidemiology) The most common form is 21-OHD, accounting for more than 90% of all cases. According to newborn screening data, classic 21-OHD affects 1 in 10,000 to 1 in 15,000. […] A study found that approximately 1 child in every 18,000 born in Great Britain has CAH. Similar numbers of boys and girls present clinically in the first year of life but boys present with more severe manifestations, such as salt-wasting crises. Salt-losing CAH accounts for about three quarters of cases reported and non-salt-losing CAH (NCAH) or one quarter. […] The worldwide prevalence of NCAH among hyperandrogenic women was 4.2% (95% confidence interval: 3.2-5.4%) and is more frequent in groups with high consanguinity, such as the Ashkenazi Jewish population. […] Congenital adrenal hyperplasia is the most common autosomal recessive disease in the world, surpassing both cystic fibrosis and phenylketonuria.

• #8 Congenital adrenal hyperplasia – Wikipedia

  https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia

  The incidence varies ethnically. In the United States, congenital adrenal hyperplasia in its classic form is particularly common in Native Americans and Yupik Inuit (incidence 1280). Among American Caucasians, the incidence of the classic form is about 115,000). […] Continued treatment and wellness are enhanced by education and follow up.

• #9 Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/919218-overview

  Congenital adrenal hyperplasia occurs among people of all races. Congenital adrenal hyperplasia secondary to CYP21A1 mutations and deletions is particularly common among the Yupik Eskimos. […] Because all forms of congenital adrenal hyperplasia are autosomal recessive disorders, both sexes are affected with equal frequency. However, because accumulated precursor hormones or associated impaired testosterone synthesis impacts sexual differentiation, the phenotypic consequences of mutations or deletions of a particular gene differ between the sexes. […] Classic congenital adrenal hyperplasia is generally recognized at birth or in early childhood because of ambiguous genitalia, salt wasting, or early virilization. Nonclassic adrenal hyperplasia is generally recognized at or after puberty because of oligomenorrhea or virilizing signs in females.

• #10 Newborn screening information for congenital adrenal hyperplasia | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) is a collection of inherited conditions that affect the body’s adrenal glands, which are the cone-shaped organs that sit on top of the kidneys. In the United States, about one in every 15,000 babies is born with congenital adrenal hyperplasia (CAH). The condition may be more or less common in certain ethnic groups and geographic regions. For example, one out of 300 babies in the Yupik Eskimo population is born with CAH. The condition is less common in people of African-American and Asian descent. […] Follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition. […] If congenital adrenal hyperplasia (CAH) is treated soon after birth, children can have healthy growth and development. This is why newborn screening is so important.

• #11 Congenital Adrenal Hyperplasia | Concise Medical Knowledge

  https://www.lecturio.com/concepts/congenital-adrenal-hyperplasia/

  Most common cause of 46,XX genotypic female individuals with ambiguous or undetermined genitalia. […] Incidence of classical congenital adrenal hyperplasia worldwide: 1 in 15,000 live births. […] Genetic predisposition varies depending on ethnicity and geographic location. […] In the United States, prevalence greater for whites (1 in 15,000 live births) than African Americans (1 in 42,000 live births). […] Yupik in Alaska: 1 in 280 live births. […] White Europeans: 1 in 5,000 to 1 in 23,000 live births. […] Non-classical CAH predisposition: Whites: 1 in 100 to 1,000 live births. […] Prevalence amongst Ashkenazi Jews, Mediterraneans, and Hispanics.

• #12 Congenital Adrenal Hyperplasia | Concise Medical Knowledge

  https://www.lecturio.com/concepts/congenital-adrenal-hyperplasia/

  Most common cause of 46,XX genotypic female individuals with ambiguous or undetermined genitalia. […] Incidence of classical congenital adrenal hyperplasia worldwide: 1 in 15,000 live births. […] Genetic predisposition varies depending on ethnicity and geographic location. […] In the United States, prevalence greater for whites (1 in 15,000 live births) than African Americans (1 in 42,000 live births). […] Yupik in Alaska: 1 in 280 live births. […] White Europeans: 1 in 5,000 to 1 in 23,000 live births. […] Non-classical CAH predisposition: Whites: 1 in 100 to 1,000 live births. […] Prevalence amongst Ashkenazi Jews, Mediterraneans, and Hispanics.

• #13 Congenital Adrenal Hyperplasia | Concise Medical Knowledge

  https://www.lecturio.com/concepts/congenital-adrenal-hyperplasia/

  Most common cause of 46,XX genotypic female individuals with ambiguous or undetermined genitalia. […] Incidence of classical congenital adrenal hyperplasia worldwide: 1 in 15,000 live births. […] Genetic predisposition varies depending on ethnicity and geographic location. […] In the United States, prevalence greater for whites (1 in 15,000 live births) than African Americans (1 in 42,000 live births). […] Yupik in Alaska: 1 in 280 live births. […] White Europeans: 1 in 5,000 to 1 in 23,000 live births. […] Non-classical CAH predisposition: Whites: 1 in 100 to 1,000 live births. […] Prevalence amongst Ashkenazi Jews, Mediterraneans, and Hispanics.

• #14 Congenital Adrenal Hyperplasia | Doctor

  https://patient.info/doctor/congenital-adrenal-hyperplasia-pro

  How common is congenital adrenal hyperplasia?(epidemiology) The most common form is 21-OHD, accounting for more than 90% of all cases. According to newborn screening data, classic 21-OHD affects 1 in 10,000 to 1 in 15,000. […] A study found that approximately 1 child in every 18,000 born in Great Britain has CAH. Similar numbers of boys and girls present clinically in the first year of life but boys present with more severe manifestations, such as salt-wasting crises. Salt-losing CAH accounts for about three quarters of cases reported and non-salt-losing CAH (NCAH) or one quarter. […] The worldwide prevalence of NCAH among hyperandrogenic women was 4.2% (95% confidence interval: 3.2-5.4%) and is more frequent in groups with high consanguinity, such as the Ashkenazi Jewish population. […] Congenital adrenal hyperplasia is the most common autosomal recessive disease in the world, surpassing both cystic fibrosis and phenylketonuria.

• #15 What Is Congenital Adrenal Hyperplasia? – Klarity Health Library

  https://my.klarity.health/what-is-congenital-adrenal-hyperplasia/

  Congenital adrenal hyperplasia affects approximately one in every 18,000 children born in Great Britain. […] The classic form occurs in 1 in every 15,000 births worldwide, while the non-classic form occurs in approximately 1 in every 1,000 births. […] Congenital adrenal hyperplasia equally affects both boys and girls, though symptoms are more severe in boys. […] Newborn screening for CAH is not recommended in the UK because of the high number of false positives and false negatives, and babies may develop symptoms before receiving test results.

• #16 Classic congenital adrenal hyperplasia | Tidsskrift for Den norske legeforening

  https://tidsskriftet.no/en/2017/04/klinisk-oversikt/classic-congenital-adrenal-hyperplasia

  Based on neonatal screening, the global prevalence of classical congenital adrenal hyperplasia is approximately 1/15 000, but there is wide variation between population groups (1). In Sweden, where neonatal screening was introduced in 1986, the prevalence is 1/8 900 (2). In Norway the prevalence is estimated to be 1/16 000, or around four new children per year (3). […] The disease is recessively inherited, and genotype is highly correlated with clinical phenotype.

• #17 Classic congenital adrenal hyperplasia | Tidsskrift for Den norske legeforening

  https://tidsskriftet.no/en/2017/04/klinisk-oversikt/classic-congenital-adrenal-hyperplasia

  Based on neonatal screening, the global prevalence of classical congenital adrenal hyperplasia is approximately 1/15 000, but there is wide variation between population groups (1). In Sweden, where neonatal screening was introduced in 1986, the prevalence is 1/8 900 (2). In Norway the prevalence is estimated to be 1/16 000, or around four new children per year (3). […] The disease is recessively inherited, and genotype is highly correlated with clinical phenotype.

• #18 Congenital adrenal hyperplasia: incidence, prevalence and rationale for inclusion on the newborn screening programme in the Republic of Ireland | BSPED2009 | 37th Meeting of the British Society for Paediatric Endocrinology and Diabetes | Endocrine Abstrac

  https://www.endocrine-abstracts.org/ea/0023/ea0023p19

  Congenital adrenal hyperplasia: incidence, prevalence and rationale for inclusion on the newborn screening programme in the Republic of Ireland […] Congenital Adrenal Hyperplasia (CAH) carries a high risk of morbidity and mortality in undetected affected infants and has an estimated incidence of 1:15 000 based on newborn screening programmes internationally. […] The incidence of CAH in ROI is 1 per 13,621 live births. There is a strong case for the introduction of newborn screening for CAH in the Republic of Ireland due to the medical, psychological and economic benefits of early diagnosis prior to salt wasting crisis.

• #19 The Prevalence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency among Children 0–18-Years-Old in Ukraine | ESPE2015 | 54th Annual ESPE (ESPE 2015) | ESPE Abstracts

  https://abstracts.eurospe.org/hrp/0084/hrp0084p3-609

  The prevalence of congenital adrenal hyperplasia (CAH) in European countries is reported as 1:1015 000. It depends on the quality of its diagnostics and efficacy of neonatal screening (NS). In Ukraine the NS was started in 2012. […] This is the first study of CAH epidemiology in children 0-18-year-old in Ukraine. […] According to the DB the prevalence of the CAH in Ukraine is 1:24 000, the incidence was calculated at one in 6 632 births (in 2013 it was born 503657 children in the ratio of boys and girls as 1:1).

• #20 Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study

  https://www.e-enm.org/journal/view.php?number=2271

  Background Previous studies on the epidemiology and complications of congenital adrenal hyperplasia (CAH) were conducted in Western countries and in children/adolescents. We aimed to explore the epidemiology of CAH, as well as the risk of comorbidities and mortality, in a Korean nationwide case-control study. […] The point prevalence of CAH patients in Korea was 1 in 18,745 persons in 2017. The annual incidence rate declined between 2003 and 2017 from 3.25 to 0.41 per 100,000 persons. […] Our nationwide study showed a recent decline in the incidence of CAH and an elevated risk for cardiovascular, metabolic, skeletal, and psychiatric disorders in CAH patients. Lifelong management for comorbidity risk is a crucial component of treating CAH patients. […] The overall number of CAH patients in South Korea from 2002 to 2017 was 2,840.

• #21 Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study

  https://www.e-enm.org/journal/view.php?number=2271

  As of 2017, there were 2,733 surviving patients, and the Korean population was 51,230,704. Thus, the point prevalence of CAH adults in Korea was 1 in 18,745 persons. […] The average annual incidence rate was 2.16 per 100,000 and declined from 3.25 per 100,000 persons in 2003 to 0.41 in 2017. […] The present Korean nationwide study reported that the point prevalence of CAH in 2017 was 1 per 18,745 persons. The average annual incidence was 2.16 per 100,000 persons and 1 per 4,984 live births in Korea. […] This is the first nationwide data in Asia, although there have been regional data or meta-analyses in Asian populations. […] We presented a higher mortality risk in adults with CAH to a lesser degree than reported in other countries.

• #22 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #23 Congenital Adrenal Hyperplasia | Doctor

  https://patient.info/doctor/congenital-adrenal-hyperplasia-pro

  How common is congenital adrenal hyperplasia?(epidemiology) The most common form is 21-OHD, accounting for more than 90% of all cases. According to newborn screening data, classic 21-OHD affects 1 in 10,000 to 1 in 15,000. […] A study found that approximately 1 child in every 18,000 born in Great Britain has CAH. Similar numbers of boys and girls present clinically in the first year of life but boys present with more severe manifestations, such as salt-wasting crises. Salt-losing CAH accounts for about three quarters of cases reported and non-salt-losing CAH (NCAH) or one quarter. […] The worldwide prevalence of NCAH among hyperandrogenic women was 4.2% (95% confidence interval: 3.2-5.4%) and is more frequent in groups with high consanguinity, such as the Ashkenazi Jewish population. […] Congenital adrenal hyperplasia is the most common autosomal recessive disease in the world, surpassing both cystic fibrosis and phenylketonuria.

• #24 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #25 Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment – PubMed

  https://pubmed.ncbi.nlm.nih.gov/11577925/

  Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a common disorder, and is characterised by a defect in cortisol biosynthesis with or without a defect in aldosterone synthesis and androgen excess. The classic form, also known as the severe form, occurs in 1:15,000 births worldwide, while the nonclassic or mild form occurs in approximately 1:1,000 births worldwide and is much more common (up to 1:20) in certain ethnic groups. […] Close clinical monitoring of growth and development is essential to optimise treatment outcome.

• #26 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #27 Congenital Adrenal Hyperplasia | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618101/all/Congenital_Adrenal_Hyperplasia?q=Acne

  The incidence of classic CAH is 1:10,000 to 1:20,000 live births. […] More common in certain ethnic groups and in remote areas. […] Approximately 75% of cases are characterized by overt salt wasting due to mineralocorticoid deficiency, whereas the remaining cases are described as simply virilizing. […] The prevalence of nonclassic CAH (also called late onset) is approximately 1:1,000. […] More common in some ethnicities such as Ashkenazi, Italian, and persons from the former Yugoslav Republic and may be as common as 1:50 individuals in these groups.

• #28 Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program

  https://www.mdpi.com/2077-0383/12/9/3128

  Congenital adrenal hyperplasia (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex. […] Although its incidence depends on ethnic (inbred) and geographic factors, classic CAH (caused by D21OH) is a rare disease with a prevalence that ranges from 1 in 10,000 to 1 in 16,000 cases. In contrast, non-classic CAH (NCCAH; also called late-onset CAH) has a much higher frequency (up to 1/500); NCCAH is also common within ethnic groups with high consanguinity, such as “Ashkenazi” Jews. Worldwide, CAH (including mild cases) is considered the most common autosomal recessive disease, surpassing cystic fibrosis and phenylketonuria. […] The initial diagnosis of CAH is commonly based on plasma 17OHP levels. Enzymatic deficiency in these individuals leads to the accumulation of this steroid hormone in direct proportion to the severity of the defect. Early detection and treatment of 21OHD-related CAH can prevent serious morbidity and mortality; therefore, all newborn screening programs should incorporate these tests.

• #29 Congenital Adrenal Hyperplasia | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618101/all/Congenital_Adrenal_Hyperplasia?q=Acne

  The incidence of classic CAH is 1:10,000 to 1:20,000 live births. […] More common in certain ethnic groups and in remote areas. […] Approximately 75% of cases are characterized by overt salt wasting due to mineralocorticoid deficiency, whereas the remaining cases are described as simply virilizing. […] The prevalence of nonclassic CAH (also called late onset) is approximately 1:1,000. […] More common in some ethnicities such as Ashkenazi, Italian, and persons from the former Yugoslav Republic and may be as common as 1:50 individuals in these groups.

• #30 Congenital Adrenal Hyperplasia | Concise Medical Knowledge

  https://www.lecturio.com/concepts/congenital-adrenal-hyperplasia/

  Most common cause of 46,XX genotypic female individuals with ambiguous or undetermined genitalia. […] Incidence of classical congenital adrenal hyperplasia worldwide: 1 in 15,000 live births. […] Genetic predisposition varies depending on ethnicity and geographic location. […] In the United States, prevalence greater for whites (1 in 15,000 live births) than African Americans (1 in 42,000 live births). […] Yupik in Alaska: 1 in 280 live births. […] White Europeans: 1 in 5,000 to 1 in 23,000 live births. […] Non-classical CAH predisposition: Whites: 1 in 100 to 1,000 live births. […] Prevalence amongst Ashkenazi Jews, Mediterraneans, and Hispanics.

• #31 Congenital Adrenal Hyperplasia | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618101/all/Congenital_Adrenal_Hyperplasia?q=Acne

  The incidence of classic CAH is 1:10,000 to 1:20,000 live births. […] More common in certain ethnic groups and in remote areas. […] Approximately 75% of cases are characterized by overt salt wasting due to mineralocorticoid deficiency, whereas the remaining cases are described as simply virilizing. […] The prevalence of nonclassic CAH (also called late onset) is approximately 1:1,000. […] More common in some ethnicities such as Ashkenazi, Italian, and persons from the former Yugoslav Republic and may be as common as 1:50 individuals in these groups.

• #32 Congenital Adrenal Hyperplasia | Doctor

  https://patient.info/doctor/congenital-adrenal-hyperplasia-pro

  How common is congenital adrenal hyperplasia?(epidemiology) The most common form is 21-OHD, accounting for more than 90% of all cases. According to newborn screening data, classic 21-OHD affects 1 in 10,000 to 1 in 15,000. […] A study found that approximately 1 child in every 18,000 born in Great Britain has CAH. Similar numbers of boys and girls present clinically in the first year of life but boys present with more severe manifestations, such as salt-wasting crises. Salt-losing CAH accounts for about three quarters of cases reported and non-salt-losing CAH (NCAH) or one quarter. […] The worldwide prevalence of NCAH among hyperandrogenic women was 4.2% (95% confidence interval: 3.2-5.4%) and is more frequent in groups with high consanguinity, such as the Ashkenazi Jewish population. […] Congenital adrenal hyperplasia is the most common autosomal recessive disease in the world, surpassing both cystic fibrosis and phenylketonuria.

• #33 Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians | Genetics in Medicine

  https://www.nature.com/articles/gim201746

  Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. […] The estimated prevalence of nonclassic CAH in Caucasians was 1 in 200 (0.5%, 95% CI: 0.012.8). […] Our study is the first to demonstrate, through state-of-the-art CYP21A2 analysis, that nonclassic CAH is less common in Ashkenazi Jews than previously suggested. […] Our estimated carrier and disease rates for Ashkenazi Jews were significantly lower than previous reports. […] Our study also suggests that nonclassic CAH is commonly found in the general US Caucasian population, with an estimated prevalence of 1 in 200 (0.5%, 95% CI: 0.012.8).

• #34 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #35 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #36 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  CAH is more prevalent among Native Americans and Yupik people in the United States. Among Whites, the incidence is approximately 1 in 15,000 individuals. The global incidence of classic 21-OH deficient CAH is estimated to be 1 in 15,000 to 20,000 births in Western countries. Approximately 75% of the affected infants present with the salt-wasting form, whereas 25% have the simple virilizing form. The nonclassic form of CAH has a prevalence of approximately 1 in 1000 in the general population but may occur as frequently as 1 in 100 to 200 in certain ethnic groups. […] The prevalence of rare CAH types varies by ethnicity and region, influenced by the founder effect and consanguinity rates. As all forms of CAH follow an autosomal recessive inheritance pattern, both sexes are equally affected. Over 250 cases of lipoid CAH, resulting from more than 120 identified StAR mutations, have been reported. This type of CAH is most prevalent in Japan and Korea, followed by the Middle East. In Japan and Korea, over 70% of affected alleles carry the Q258X variant, likely due to the founder effect. A nationwide report from Japan estimated the prevalence to be approximately 2 per million.

• #37 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Fewer than 100 cases of SCC deficiency have been documented, with the most common variant being R451W, primarily reported in Turkey. In contrast, 3-HSD-2 defects have been identified globally, with an estimated incidence of less than 1 in 1,000,000 live births. The incidence of 11-OH deficiency is estimated to range from 1 in 100,000 to 200,000 live births. To date, more than 200 mutations have been identified. Certain regions in North Africa and the Middle East have reported notably high prevalence rates. The incidence of 17-OH deficiency is approximately 1 in 50,000 live births, with a higher prevalence in Brazil, likely due to founder mutations. The prevalence and incidence of POR deficiency remain unknown, with slightly over 100 cases reported in the literature.

• #38 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Fewer than 100 cases of SCC deficiency have been documented, with the most common variant being R451W, primarily reported in Turkey. In contrast, 3-HSD-2 defects have been identified globally, with an estimated incidence of less than 1 in 1,000,000 live births. The incidence of 11-OH deficiency is estimated to range from 1 in 100,000 to 200,000 live births. To date, more than 200 mutations have been identified. Certain regions in North Africa and the Middle East have reported notably high prevalence rates. The incidence of 17-OH deficiency is approximately 1 in 50,000 live births, with a higher prevalence in Brazil, likely due to founder mutations. The prevalence and incidence of POR deficiency remain unknown, with slightly over 100 cases reported in the literature.

• #39 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Fewer than 100 cases of SCC deficiency have been documented, with the most common variant being R451W, primarily reported in Turkey. In contrast, 3-HSD-2 defects have been identified globally, with an estimated incidence of less than 1 in 1,000,000 live births. The incidence of 11-OH deficiency is estimated to range from 1 in 100,000 to 200,000 live births. To date, more than 200 mutations have been identified. Certain regions in North Africa and the Middle East have reported notably high prevalence rates. The incidence of 17-OH deficiency is approximately 1 in 50,000 live births, with a higher prevalence in Brazil, likely due to founder mutations. The prevalence and incidence of POR deficiency remain unknown, with slightly over 100 cases reported in the literature.

• #40 C-11 Hydroxylase Deficiency: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/117012-overview

  The prevalence of 11-beta-hydroxylase deficiency is approximately 1 case per 100,000 live births. […] The international prevalence of 11-beta-hydroxylase deficiency is similar to US rates in most reported series worldwide. However, the reported rate among Jewish people from Morocco is much higher, being 1 case per 5000-7000 live births. […] 11-beta-hydroxylase deficiency is most commonly found in Jewish people of Moroccan descent. […] Although 11-beta-hydroxylase deficiency is more easily recognizable in females, no sex predilection exists. […] A genetic disease, 11-beta-hydroxylase deficiency affects patients throughout their life. The peak age at diagnosis is infancy and early childhood. In an international cohort, the median age at diagnosis was 1.08 years. […] Females present as neonates with ambiguous external genitalia, and males present as toddlers with virilization. The mild form of 11-beta-hydroxylase deficiency is rare and may present with menstrual irregularities and hirsutism in adolescent or adult women.

• #41 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Fewer than 100 cases of SCC deficiency have been documented, with the most common variant being R451W, primarily reported in Turkey. In contrast, 3-HSD-2 defects have been identified globally, with an estimated incidence of less than 1 in 1,000,000 live births. The incidence of 11-OH deficiency is estimated to range from 1 in 100,000 to 200,000 live births. To date, more than 200 mutations have been identified. Certain regions in North Africa and the Middle East have reported notably high prevalence rates. The incidence of 17-OH deficiency is approximately 1 in 50,000 live births, with a higher prevalence in Brazil, likely due to founder mutations. The prevalence and incidence of POR deficiency remain unknown, with slightly over 100 cases reported in the literature.

• #42 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Fewer than 100 cases of SCC deficiency have been documented, with the most common variant being R451W, primarily reported in Turkey. In contrast, 3-HSD-2 defects have been identified globally, with an estimated incidence of less than 1 in 1,000,000 live births. The incidence of 11-OH deficiency is estimated to range from 1 in 100,000 to 200,000 live births. To date, more than 200 mutations have been identified. Certain regions in North Africa and the Middle East have reported notably high prevalence rates. The incidence of 17-OH deficiency is approximately 1 in 50,000 live births, with a higher prevalence in Brazil, likely due to founder mutations. The prevalence and incidence of POR deficiency remain unknown, with slightly over 100 cases reported in the literature.

• #43 Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study

  https://www.e-enm.org/journal/view.php?number=2271

  Background Previous studies on the epidemiology and complications of congenital adrenal hyperplasia (CAH) were conducted in Western countries and in children/adolescents. We aimed to explore the epidemiology of CAH, as well as the risk of comorbidities and mortality, in a Korean nationwide case-control study. […] The point prevalence of CAH patients in Korea was 1 in 18,745 persons in 2017. The annual incidence rate declined between 2003 and 2017 from 3.25 to 0.41 per 100,000 persons. […] Our nationwide study showed a recent decline in the incidence of CAH and an elevated risk for cardiovascular, metabolic, skeletal, and psychiatric disorders in CAH patients. Lifelong management for comorbidity risk is a crucial component of treating CAH patients. […] The overall number of CAH patients in South Korea from 2002 to 2017 was 2,840.

• #44 Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study

  https://www.e-enm.org/journal/view.php?number=2271

  As of 2017, there were 2,733 surviving patients, and the Korean population was 51,230,704. Thus, the point prevalence of CAH adults in Korea was 1 in 18,745 persons. […] The average annual incidence rate was 2.16 per 100,000 and declined from 3.25 per 100,000 persons in 2003 to 0.41 in 2017. […] The present Korean nationwide study reported that the point prevalence of CAH in 2017 was 1 per 18,745 persons. The average annual incidence was 2.16 per 100,000 persons and 1 per 4,984 live births in Korea. […] This is the first nationwide data in Asia, although there have been regional data or meta-analyses in Asian populations. […] We presented a higher mortality risk in adults with CAH to a lesser degree than reported in other countries.

• #45 Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance | Archives of Disease in Childhood

  https://adc.bmj.com/content/99/1/30

  Fifty-eight children (26 [45%] boys) aged 1-15 years were reported; 50 (86%) had 21-hydroxylase deficiency. […] In Great Britain, 30 children aged 1-15 years present annually for the first time with CAH. […] Each year in Great Britain, in an unscreened population, around 30 children aged over 1 year are clinically diagnosed with congenital adrenal hyperplasia. […] The annual age-specific incidence (risk) of CAH diagnosis between 1 and 15 years of age was 0.23 per 100,000 children. […] We report the incidence and clinical features of new diagnoses of CAH in children aged over 1 year in Great Britain ascertained through active national surveillance of over 3000 paediatricians with a 94% monthly response rate. […] The age-specific risk of new CAH diagnosis aged 1-15 years is low at 0.23 per 100,000 in comparison with 5.5 per 100,000 children aged under 1 year.

• #46 Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance | Archives of Disease in Childhood

  https://adc.bmj.com/content/99/1/30

  Diagnosis in three-quarters of children was precipitated by premature secondary sexual characteristics at a median age of 6 years. […] Late childhood diagnosis of CAH has significant implications for adult health and early detection and treatment might prevent adverse clinical progression and irreversible sequelae.

• #47 New Clinical Developments in Congenital Adrenal Hyperplasia Treatment

  https://www.delveinsight.com/blog/congenital-adrenal-hyperplasia-treatment-landscape

  Congenital adrenal hyperplasia (CAH) is a rare inherited autosomal recessive disorder defined by a lack of one of the enzymes required to produce specific hormones. In the United States and Europe, the most prevalent type of CAH, 21 hydroxylase deficiency, affects around 1:10,000 to 1:15,000 people. The estimated CAH prevalence is 1 in 10,000, and the yearly incidence ranges from 1 in 5000 to 1 in 15,000. […] As per DelveInsight analysis, the total 7MM diagnosed prevalent cases of CAH in 2021 were more than 73K, out of which the maximum cases were seen in the US. The EU5 countries accounted for approximately 30K cases in 2021. Moreover, the United States has the highest number of age-specific CAH cases, among which the highest observed in the 18 years age group in 2021, per our analysis. Furthermore, as per Delveinsights estimates, the age-specific cases of CAH are expected to increase by 2032. […] As per DelveInsight analysis, the total congenital adrenal hyperplasia market size was approximately USD 21 million in the 7MM in 2021.

• #48 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  United States has the highest number of age-specific CAH cases (more than 9K cases in 18 years age group and around 22K cases in 18 years age group) in 2021, per DelveInsight’s analysis. Furthermore, per Delveinsight’s analysis, the age-specific cases of CAH are expected to increase by 2032. […] The congenital adrenal hyperplasia market report proffers epidemiological analysis for the study period 20192032 in the 7MM segmented into: Congenital Adrenal Hyperplasia Diagnosed Prevalence, Congenital Adrenal Hyperplasia Age-specific Cases, Congenital Adrenal Hyperplasia Mutations-based Cases, Type-specific Cases of Classical Congenital Adrenal Hyperplasia. […] The dynamics of the congenital adrenal hyperplasia are expected to change in the coming years. In developed countries worldwide, prenatal and newborn screening programs for CAH disease have been successfully implemented, facilitating early detection and treatment in children.

• #49 Congenital Adrenal Hyperplasia (CAH) – Epidemiology Forecast to 2032

  https://www.researchandmarkets.com/reports/5602380/congenital-adrenal-hyperplasia-cah?srsltid=AfmBOor128WfDf4sLjV_338jqeSu8XoPpvmru35lmDxr-cTCNbrt43XT

  The total diagnosed population of congenital adrenal hyperplasia (CAH) in the 7MM countries was close to 73,000 cases in 2021. As per the estimates, the United States had the highest diagnosed prevalence of congenital adrenal hyperplasia (CAH) population in 2021. Among the EU5 countries, Germany had the highest diagnosed prevalent population of congenital adrenal hyperplasia (CAH) with nearly 8,000 cases, followed by France in 2021. On the other hand, Spain had the lowest diagnosed prevalent population of close to 4,300 cases in 2021.

• #50 Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

  https://www.mdpi.com/2409-515X/6/3/64

  Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. […] Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. […] This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical Assistance and Evaluation Program data repository. […] By the time CAH was added to the RUSP in 2005, 72% (n = 38/53) of NBS programs were already universally screening for the disorder. […] Currently, all 53 NBS programs universally screen for CAH, programs which consist of the 50 US states, the District of Columbia, Puerto Rico and Guam.

• #51 Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

  https://www.mdpi.com/2409-515X/6/3/64

  Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. […] Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. […] This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical Assistance and Evaluation Program data repository. […] By the time CAH was added to the RUSP in 2005, 72% (n = 38/53) of NBS programs were already universally screening for the disorder. […] Currently, all 53 NBS programs universally screen for CAH, programs which consist of the 50 US states, the District of Columbia, Puerto Rico and Guam.

• #52 Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

  https://www.mdpi.com/2409-515X/6/3/64

  Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. […] Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. […] This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical Assistance and Evaluation Program data repository. […] By the time CAH was added to the RUSP in 2005, 72% (n = 38/53) of NBS programs were already universally screening for the disorder. […] Currently, all 53 NBS programs universally screen for CAH, programs which consist of the 50 US states, the District of Columbia, Puerto Rico and Guam.

• #53 Congenital adrenal hyperplasia | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/congenital-adrenal-hyperplasia

  Hundreds of babies are born with the classic form of this condition each year in the United States. […] Newborn screening for CAH is done using a small amount of blood collected from your baby’s heel. […] Babies with high levels of 17-OHP might have CAH due to 21-OHD. […] The two classic forms of CAH due to 21-OHD are the forms that newborn screening assesses. […] False-positive newborn screening results for this condition do happen. […] Newborn screening helps babies lead healthier lives. […] It is important to follow their instructions. […] Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it.

• #54 Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

  https://www.mdpi.com/2409-515X/6/3/64

  CAH, caused by steroid 21-hydroxylase deficiency, occurs in 1/15,000 births, and is more common in certain populations. […] NewSTEPs collects and classifies CAH cases in three categories: Classic 21-hydroxylase deficiency (salt-wasting), Classic 21-hydroxylase deficiency (simple virilizing), and other adrenal disorder. […] By identifying babies with severe, salt-wasting CAH before they develop adrenal crises, screening reduces morbidity and mortality, especially among affected boys. […] Diagnosis is based on elevated levels of 17-hydroxyprogesterone (17-OHP), the preferred substrate for steroid 21-hydroxylase. […] NewSTEPs, a program of the Association of Public Health Laboratories (APHL), is the national NBS resource center designed to provide data, technical assistance and training to US NBS programs and assist them with quality improvement initiatives.

• #55 Just how Common is Nonclassic Congenital Adrenal Hyperplasia? – The ObG Project

  https://www.obgproject.com/2017/11/30/just-common-nonclassic-congenital-adrenal-hyerplasia/

  Epidemiology of congenital adrenal hyperplasia (CAH) is well established, due to newborn screening (NBS) programs, now available in over 40 countries […] Prevalence estimated between 1:10,000 – 1:20,000 […] NBS programs do not screen for more mild forms of nonclassic or mild forms of CAH, and rates are based on a paper dating from 1985 […] Carrier rates for nonclassic CAH is higher in Caucasians and lower in Ashkenazi Jews than previously reported […] Nonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling.

• #56 Orphanet: Congenital adrenal hyperplasia

  https://www.orpha.net/en/disease/detail/418

  A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity. […] The estimated prevalence is 1/10,000. Annual incidence ranges from 1/5,000 to 1/15,000. […] In most European countries there are newborn screening programs in place to diagnose CAH at birth.

• #57 Orphanet: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

  https://www.orpha.net/en/disease/detail/90794

  Classic CAH due to 21-hydroxylase deficiency (21-OHD) is the most common form of CAH with a prevalence estimated at 1/14,000. […] Newborn screening programs in most European countries diagnose cases of CAH at birth through 17-hydroxy-progesterone (17-OHP) analysis. […] Life expectancy may be reduced as patients with CAH have a risk of acute adrenal insufficiency and higher metabolic and cardiovascular risk.

• #58 Classic congenital adrenal hyperplasia | Tidsskrift for Den norske legeforening

  https://tidsskriftet.no/en/2017/04/klinisk-oversikt/classic-congenital-adrenal-hyperplasia

  Based on neonatal screening, the global prevalence of classical congenital adrenal hyperplasia is approximately 1/15 000, but there is wide variation between population groups (1). In Sweden, where neonatal screening was introduced in 1986, the prevalence is 1/8 900 (2). In Norway the prevalence is estimated to be 1/16 000, or around four new children per year (3). […] The disease is recessively inherited, and genotype is highly correlated with clinical phenotype.

• #59 Congenital adrenal hyperplasia : Guidelines, reviews, epidemiology

  https://www.gfmer.ch/Guidelines/Sex-differentiation-disorders/Congenital_adrenal_hyperplasia.htm

  Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants [2020] […] Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy [2020] […] Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States [2020].

• #60 Congenital adrenal hyperplasia : Guidelines, reviews, epidemiology

  https://www.gfmer.ch/Guidelines/Sex-differentiation-disorders/Congenital_adrenal_hyperplasia.htm

  Congenital adrenal hyperplasia (CAH) in neonates […] Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme [2020] […] Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants [2017] […] Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey [2024] […] Analysis of the Screening Results for Congenital Adrenal Hyperplasia Involving 7.85 Million Newborns in China: A Systematic Review and Meta-Analysis [2021] […] Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study [2022] […] Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [2020]

• #61 Congenital adrenal hyperplasia : Guidelines, reviews, epidemiology

  https://www.gfmer.ch/Guidelines/Sex-differentiation-disorders/Congenital_adrenal_hyperplasia.htm

  Congenital adrenal hyperplasia (CAH) in neonates […] Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme [2020] […] Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants [2017] […] Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey [2024] […] Analysis of the Screening Results for Congenital Adrenal Hyperplasia Involving 7.85 Million Newborns in China: A Systematic Review and Meta-Analysis [2021] […] Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study [2022] […] Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [2020]

• #62 Just how Common is Nonclassic Congenital Adrenal Hyperplasia? – The ObG Project

  https://www.obgproject.com/2017/11/30/just-common-nonclassic-congenital-adrenal-hyerplasia/

  Epidemiology of congenital adrenal hyperplasia (CAH) is well established, due to newborn screening (NBS) programs, now available in over 40 countries […] Prevalence estimated between 1:10,000 – 1:20,000 […] NBS programs do not screen for more mild forms of nonclassic or mild forms of CAH, and rates are based on a paper dating from 1985 […] Carrier rates for nonclassic CAH is higher in Caucasians and lower in Ashkenazi Jews than previously reported […] Nonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling.

• #63 What Is Congenital Adrenal Hyperplasia? – Klarity Health Library

  https://my.klarity.health/what-is-congenital-adrenal-hyperplasia/

  Congenital adrenal hyperplasia affects approximately one in every 18,000 children born in Great Britain. […] The classic form occurs in 1 in every 15,000 births worldwide, while the non-classic form occurs in approximately 1 in every 1,000 births. […] Congenital adrenal hyperplasia equally affects both boys and girls, though symptoms are more severe in boys. […] Newborn screening for CAH is not recommended in the UK because of the high number of false positives and false negatives, and babies may develop symptoms before receiving test results.

• #64 Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states

  https://stacks.cdc.gov/view/cdc/36455

  There is no clear consensus among state newborn screening programs on whether routine second screening of newborns identifies clinically relevant cases of congenital adrenal hyperplasia. […] A total of 374 confirmed cases of CAH from 2 one-screen states and 5 two-screen states were included in this study. […] The one-screen states reported 99 cases of CAH out of 1,740,586 (1 in 17,500) newborns screened: 88 (89%) identified on the first screen and 5 (5%) identified on the targeted second screen. […] The two-screen states reported 275 cases of CAH out of 2,629,627 (1 in 9500) newborns screened: 165 (60%) identified on the first screen and 99 (36%) identified on the second screen. […] The routine second newborn screen is important for identifying children with CAH, particularly simple virilizing and non-classical forms, which might otherwise not be captured through a single screen.

• #65 Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states

  https://stacks.cdc.gov/view/cdc/36455

  There is no clear consensus among state newborn screening programs on whether routine second screening of newborns identifies clinically relevant cases of congenital adrenal hyperplasia. […] A total of 374 confirmed cases of CAH from 2 one-screen states and 5 two-screen states were included in this study. […] The one-screen states reported 99 cases of CAH out of 1,740,586 (1 in 17,500) newborns screened: 88 (89%) identified on the first screen and 5 (5%) identified on the targeted second screen. […] The two-screen states reported 275 cases of CAH out of 2,629,627 (1 in 9500) newborns screened: 165 (60%) identified on the first screen and 99 (36%) identified on the second screen. […] The routine second newborn screen is important for identifying children with CAH, particularly simple virilizing and non-classical forms, which might otherwise not be captured through a single screen.

• #66 Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states

  https://stacks.cdc.gov/view/cdc/36455

  There is no clear consensus among state newborn screening programs on whether routine second screening of newborns identifies clinically relevant cases of congenital adrenal hyperplasia. […] A total of 374 confirmed cases of CAH from 2 one-screen states and 5 two-screen states were included in this study. […] The one-screen states reported 99 cases of CAH out of 1,740,586 (1 in 17,500) newborns screened: 88 (89%) identified on the first screen and 5 (5%) identified on the targeted second screen. […] The two-screen states reported 275 cases of CAH out of 2,629,627 (1 in 9500) newborns screened: 165 (60%) identified on the first screen and 99 (36%) identified on the second screen. […] The routine second newborn screen is important for identifying children with CAH, particularly simple virilizing and non-classical forms, which might otherwise not be captured through a single screen.

• #67 Predicting gestational age improves newborn screening for congenital adrenal hyperplasia: a retrospective cohort study – Jomaa – Journal of Laboratory and Precision Medicine

  https://jlpm.amegroups.org/article/view/6410/html

  Newborn screening for congenital adrenal hyperplasia (CAH) is increasingly performed using a two-tiered approach; 17-hydroxyprogesterone by immunoassay followed by steroid panel by liquid chromatography mass spectrometry. The first tier uses gestational age (GA)-based 17-hydroxyprogesterone screening thresholds. GA is unreported in approximately 5% of births and, in these cases, birth weight (BW)-based screening thresholds are used. However, BW based thresholds have a lower specificity, resulting in more first tier false positives. By combining newborn demographics and the screening analytes measured in the newborn blood spot screen, a predictive model can be used to estimate GA. In this study, GA was predicted in newborns with an unreported GA. Newborns underwent subsequent GA-based screening to determine whether this method results in a higher positive predictive value (PPV) than current BW-based screening methods.

• #68 Predicting gestational age improves newborn screening for congenital adrenal hyperplasia: a retrospective cohort study – Jomaa – Journal of Laboratory and Precision Medicine

  https://jlpm.amegroups.org/article/view/6410/html

  CAH is diagnosed in 1 in 15,000-20,000 newborns and the majority of cases (90%) are caused by mutations to the CYP21A2 gene encoding 21-hydroxylase (21-OH). In Ontario, Canada, almost all children undergo newborn screening for inborn diseases to intervene in the disease course early and prevent long-term consequences. A blood sample is obtained from the heel of newborns 24-72 hours after birth and analyte levels are measured to detect underlying metabolic and endocrine disorders. These results are combined with key demographic information from the newborn, including gestational age (GA) and birth weight (BW), to screen for over 25 disorders. The primary target of CAH screening is to identify newborns with the classic salt-wasting and simple virilizing forms of the disease. […] In Newborn Screening Ontario, CAH screening follows a two-tier approach. In first-tier screening, 17-OHP levels are compared to a threshold value. Samples that exceed this threshold undergo second-tier screening via a steroid panel by liquid chromatography mass spectrometry, and the final screen positive population is referred for diagnostic evaluation. First and second tier screening results are available within 48 hours of sample receipt. The positive predictive value (PPV) of first-tier screening is 56% and reduces the number of samples that require further screening. The PPV of second-tier screening is subsequently 67%.

• #69 2nd Tier CAH Test Reduces False Positives and Parental Anxiety | Wisconsin State Laboratory of Hygiene

  https://www.slh.wisc.edu/2nd-tier-cah-test-reduces-false-positives-and-parental-anxiety/

  According to Held, in the first six months since the 2nd tier test was implemented, 245 babies had abnormal results from the 1st tier CAH screen. After the 2nd tier test was performed, that number dropped to 16. Ultimately, three babies were confirmed to have the disorder. The 2nd tier test reduced the false positive rate by 93%. […] Implementing the 2nd tier test means our lab staff only had to contact 16 babies doctors about abnormal test results rather than 245, Held said.

• #70 Predicting gestational age improves newborn screening for congenital adrenal hyperplasia: a retrospective cohort study – Jomaa – Journal of Laboratory and Precision Medicine

  https://jlpm.amegroups.org/article/view/6410/html

  GA-based 17-OHP thresholds have been shown to have a higher specificity than BW-based 17-OHP thresholds and are the preferred approach for newborn screening for CAH. However, GA is unreported for approximately 5% of births, often due to poor recall of menstrual histories, late prenatal presentation, and/or inability to access prenatal ultrasound. For these newborns, no screening approaches have been described apart from BW-based screening. As a result, a surplus of false positive samples undergo resource-intensive second-tier testing and contribute to the final screen positive population that has to undergo diagnostic testing. […] This study presents a strategy for further reducing the false positive rate of first-tier CAH screening while continuing to identify all true positive cases. Compared to BW, GA has been shown to more accurately predict 17-OHP levels because of its closer association with adrenal gland development. The implementation of GA-based 17-OHP thresholds has increased the PPV of first-tier CAH screening; however, high rates of false positive screening results still persist.

• #71 Predicting gestational age improves newborn screening for congenital adrenal hyperplasia: a retrospective cohort study – Jomaa – Journal of Laboratory and Precision Medicine

  https://jlpm.amegroups.org/article/view/6410/html

  This is the first study to propose a novel approach to CAH screening for newborns with unreported GA who would otherwise undergo BW-based screening. Here, the PPV of screening for this sub-population was increased from 1.52% (130 false positives) with BW-based screening to 1.89% (104 false positives) with sequential screening. A limitation of this study was the small number of newborns with CAH and unreported GA who could be included in the sub-population analysis. However, all newborns with CAH received a positive screening result when performing PGA-based screening, suggesting that this limitation is not a barrier to the study conclusions. Thus, application of a PGA for newborns with unreported GA is one step that can be taken to improve the specificity of first-tier screening and reduce the need for subsequent tests.

• #72 Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program

  https://www.mdpi.com/2077-0383/12/9/3128

  Surveillance in CAH patients should focus on several areas that include (a) clinical and biochemical monitoring of hormonal replacement therapy, (b) the correction of hyperandrogenism, (c) the monitoring of height and anthropometry in pediatric patients, and (d) the assessment of the potential side effects of therapy. For patients with classic CAH or women with NCCAH who experience fertility issues, we recommend treatments delivered by a multidisciplinary team with expertise in this condition, including endocrinologists, gynecologists, and geneticists.

• #73 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

  https://www.endocrine.org/clinical-practice-guidelines/congenital-adrenal-hyperplasia-guideline-resources

  All newborn screening programs should incorporate screening for congenital adrenal hyperplasia, and infants with positive screens should be referred to pediatric endocrinologists. […] Adolescents with congenital adrenal hyperplasia should start the transition to adult care several years prior to dismissal from pediatric endocrinology to ensure continuation of care throughout their entire life. […] For patients with congenital adrenal hyperplasia, we suggest introducing counseling regarding healthy lifestyle choices at an early age to maintain body mass index within the normal range to avoid metabolic syndrome and related sequelae. […] In adult patients with congenital adrenal hyperplasia, we suggest screening of bone mineral density in anyone subjected to a prolonged period of higher-than-average glucocorticoid dosing, or who has suffered a non-traumatic fracture. […] In patients with congenital adrenal hyperplasia, we recommend against routine evaluation for cardiac and metabolic disease beyond that recommended for the general population.

• #74 Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment – PubMed

  https://pubmed.ncbi.nlm.nih.gov/11577925/

  Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a common disorder, and is characterised by a defect in cortisol biosynthesis with or without a defect in aldosterone synthesis and androgen excess. The classic form, also known as the severe form, occurs in 1:15,000 births worldwide, while the nonclassic or mild form occurs in approximately 1:1,000 births worldwide and is much more common (up to 1:20) in certain ethnic groups. […] Close clinical monitoring of growth and development is essential to optimise treatment outcome.

• #75 Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

  https://www.mdpi.com/2409-515X/6/3/64

  CAH, caused by steroid 21-hydroxylase deficiency, occurs in 1/15,000 births, and is more common in certain populations. […] NewSTEPs collects and classifies CAH cases in three categories: Classic 21-hydroxylase deficiency (salt-wasting), Classic 21-hydroxylase deficiency (simple virilizing), and other adrenal disorder. […] By identifying babies with severe, salt-wasting CAH before they develop adrenal crises, screening reduces morbidity and mortality, especially among affected boys. […] Diagnosis is based on elevated levels of 17-hydroxyprogesterone (17-OHP), the preferred substrate for steroid 21-hydroxylase. […] NewSTEPs, a program of the Association of Public Health Laboratories (APHL), is the national NBS resource center designed to provide data, technical assistance and training to US NBS programs and assist them with quality improvement initiatives.

• #76 Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

  https://www.mdpi.com/2409-515X/6/3/64

  NewSTEPs maintains a centralized and secure data repository that is designed to collect comprehensive data on NBS programs. […] NewSTEPs collects individual-level confirmed case data, as well as aggregate counts of confirmed cases by NBS programs. […] NewSTEPs defines intervention by an appropriate medical provider as the date of the clinic visit or hospital consultation to evaluate the potential diagnosis of CAH. […] The median time from birth to intervention by an appropriate medical provider for CAH cases (N = 233) was 6 days. […] The median time from birth to confirmation of diagnosis of CAH cases (N = 243) was 10 days. […] The analysis of the CAH case data submitted by 13 NBS programs for all three years shows that the median time interval of birth to the confirmation of diagnosis was the same compared to that of all CAH cases entered.

• #77 The burden of illness associated with adolescent and adult congenital adrenal hyperplasia: results of a structured literature review | ECE2022 | European Congress of Endocrinology 2022 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0081/ea0081ep94

  Both adolescent and adult patients with CAH were also at risk of developing psychosocial health issues compared to the general population, with adult patients experiencing emotional trauma related to their condition and subsequently finding it difficult to speak about their illness. […] Although the literature was sparse, it did indicate that CAH is associated with a substantial caregiver burden; parents of children/adolescents with CAH reported high levels of anxiety, depression and worry for their loved one. […] Furthermore, CAH was also associated with a notable economic burden, with significantly higher annual healthcare costs compared to matched controls (P=0.007 for patients aged 18-40 years; P<0.001 for patients aged ≥40 years). [...] Our review highlights that CAH is a complex and debilitating disease which is associated with significant humanistic, caregiver and economic burden in both child/adolescent and adult CAH patients.

• #78 The burden of illness associated with adolescent and adult congenital adrenal hyperplasia: results of a structured literature review | ECE2022 | European Congress of Endocrinology 2022 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0081/ea0081ep94

  Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition caused by enzyme deficiency in cortisol biosynthesis. The aim of this study was to evaluate the burden of illness associated with child/adolescent and adult CAH. […] The evidence presented here focusses on the humanistic, caregiver and economic burden of child/adolescent and adult CAH. […] Compared to the general population, patients with CAH (irrespective of age) were found to be significantly shorter and experienced poor bone health, increased occurrences of cardiometabolic events (including obesity, hypertension and insulin resistance), were at risk of developing adrenal crises (which contributed to excess mortality), and in adolescent/adult CAH, had impaired male and female fertility (with adolescents commonly experiencing precocious puberty).

• #79 The burden of illness associated with adolescent and adult congenital adrenal hyperplasia: results of a structured literature review | ECE2022 | European Congress of Endocrinology 2022 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0081/ea0081ep94

  Both adolescent and adult patients with CAH were also at risk of developing psychosocial health issues compared to the general population, with adult patients experiencing emotional trauma related to their condition and subsequently finding it difficult to speak about their illness. […] Although the literature was sparse, it did indicate that CAH is associated with a substantial caregiver burden; parents of children/adolescents with CAH reported high levels of anxiety, depression and worry for their loved one. […] Furthermore, CAH was also associated with a notable economic burden, with significantly higher annual healthcare costs compared to matched controls (P=0.007 for patients aged 18-40 years; P<0.001 for patients aged ≥40 years). [...] Our review highlights that CAH is a complex and debilitating disease which is associated with significant humanistic, caregiver and economic burden in both child/adolescent and adult CAH patients.

• #80 The burden of illness associated with adolescent and adult congenital adrenal hyperplasia: results of a structured literature review | ECE2022 | European Congress of Endocrinology 2022 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0081/ea0081ep94

  Both adolescent and adult patients with CAH were also at risk of developing psychosocial health issues compared to the general population, with adult patients experiencing emotional trauma related to their condition and subsequently finding it difficult to speak about their illness. […] Although the literature was sparse, it did indicate that CAH is associated with a substantial caregiver burden; parents of children/adolescents with CAH reported high levels of anxiety, depression and worry for their loved one. […] Furthermore, CAH was also associated with a notable economic burden, with significantly higher annual healthcare costs compared to matched controls (P=0.007 for patients aged 18-40 years; P<0.001 for patients aged ≥40 years). [...] Our review highlights that CAH is a complex and debilitating disease which is associated with significant humanistic, caregiver and economic burden in both child/adolescent and adult CAH patients.

• #81 The burden of illness associated with adolescent and adult congenital adrenal hyperplasia: results of a structured literature review | ECE2022 | European Congress of Endocrinology 2022 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0081/ea0081ep94

  Both adolescent and adult patients with CAH were also at risk of developing psychosocial health issues compared to the general population, with adult patients experiencing emotional trauma related to their condition and subsequently finding it difficult to speak about their illness. […] Although the literature was sparse, it did indicate that CAH is associated with a substantial caregiver burden; parents of children/adolescents with CAH reported high levels of anxiety, depression and worry for their loved one. […] Furthermore, CAH was also associated with a notable economic burden, with significantly higher annual healthcare costs compared to matched controls (P=0.007 for patients aged 18-40 years; P<0.001 for patients aged ≥40 years). [...] Our review highlights that CAH is a complex and debilitating disease which is associated with significant humanistic, caregiver and economic burden in both child/adolescent and adult CAH patients.

• #82 New Clinical Developments in Congenital Adrenal Hyperplasia Treatment

  https://www.delveinsight.com/blog/congenital-adrenal-hyperplasia-treatment-landscape

  Congenital adrenal hyperplasia (CAH) is a rare inherited autosomal recessive disorder defined by a lack of one of the enzymes required to produce specific hormones. In the United States and Europe, the most prevalent type of CAH, 21 hydroxylase deficiency, affects around 1:10,000 to 1:15,000 people. The estimated CAH prevalence is 1 in 10,000, and the yearly incidence ranges from 1 in 5000 to 1 in 15,000. […] As per DelveInsight analysis, the total 7MM diagnosed prevalent cases of CAH in 2021 were more than 73K, out of which the maximum cases were seen in the US. The EU5 countries accounted for approximately 30K cases in 2021. Moreover, the United States has the highest number of age-specific CAH cases, among which the highest observed in the 18 years age group in 2021, per our analysis. Furthermore, as per Delveinsights estimates, the age-specific cases of CAH are expected to increase by 2032. […] As per DelveInsight analysis, the total congenital adrenal hyperplasia market size was approximately USD 21 million in the 7MM in 2021.

• #83 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  Moreover, congenital adrenal hyperplasia treatment poses a significant economic burden and disrupts patients’ overall well-being and QOL. […] Furthermore, the congenital adrenal hyperplasia market growth may be offset by failures and discontinuation of emerging therapies, unaffordable pricing, market access and reimbursement issues, and a shortage of healthcare specialists. […] In addition, the undiagnosed, unreported cases and the unawareness about the disease may also impact the congenital adrenal hyperplasia market growth.

• #84 Global Congenital Adrenal Hyperplasia Market Report to 2032 – Insights, Epidemiology and Forecasts – ResearchAndMarkets.com

  https://www.businesswire.com/news/home/20221014005279/en/Global-Congenital-Adrenal-Hyperplasia-Market-Report-to-2032—Insights-Epidemiology-and-Forecasts—ResearchAndMarkets.com

  The congenital adrenal hyperplasia (CAH) market report provides current treatment practices, emerging drugs, market share of the individual therapies, current and forecasted congenital adrenal hyperplasia (CAH) market size from 2019 to 2032, segmented by seven major markets. […] Comprehensive insight is provided into the congenital adrenal hyperplasia (CAH) epidemiology and treatment in the 7MM. […] The report provides an edge while developing business strategies by understanding trends shaping and driving the global congenital adrenal hyperplasia (CAH) market. […] In the coming years, the congenital adrenal hyperplasia (CAH) market is set to change due to the rising awareness of the disease and incremental healthcare spending across the world; which would expand the size of the market to enable the drug manufacturers to penetrate more into the market. […] The companies and academics are working to assess challenges and seek opportunities that could influence congenital adrenal hyperplasia (CAH) R&D.

• #85 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  Ongoing research and therapeutic trials exploring novel molecules like selective corticotropin-releasing factor type 1-receptor inhibitors, gene therapy, and ACAT-1 inhibitors are yielding promising outcomes. […] A novel extended therapy approach is being explored to address the long-term side effects, complications, and circadian rhythm insufficiency associated with glucocorticoids and mineralocorticoids. […] Although the current treatment primarily targets patients with 21-hydroxylase insufficiency, potential research on atypical CAH variations is expected to open avenues for treating rare types in the future. […] Furthermore, the congenital adrenal hyperplasia pipeline is very robust; many potential therapies are being investigated for the treatment of congenital adrenal hyperplasia, and it is safe to predict that the treatment space will significantly impact the congenital adrenal hyperplasia market during the forecast period.

• #86 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  Ongoing research and therapeutic trials exploring novel molecules like selective corticotropin-releasing factor type 1-receptor inhibitors, gene therapy, and ACAT-1 inhibitors are yielding promising outcomes. […] A novel extended therapy approach is being explored to address the long-term side effects, complications, and circadian rhythm insufficiency associated with glucocorticoids and mineralocorticoids. […] Although the current treatment primarily targets patients with 21-hydroxylase insufficiency, potential research on atypical CAH variations is expected to open avenues for treating rare types in the future. […] Furthermore, the congenital adrenal hyperplasia pipeline is very robust; many potential therapies are being investigated for the treatment of congenital adrenal hyperplasia, and it is safe to predict that the treatment space will significantly impact the congenital adrenal hyperplasia market during the forecast period.

• #87 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  Ongoing research and therapeutic trials exploring novel molecules like selective corticotropin-releasing factor type 1-receptor inhibitors, gene therapy, and ACAT-1 inhibitors are yielding promising outcomes. […] A novel extended therapy approach is being explored to address the long-term side effects, complications, and circadian rhythm insufficiency associated with glucocorticoids and mineralocorticoids. […] Although the current treatment primarily targets patients with 21-hydroxylase insufficiency, potential research on atypical CAH variations is expected to open avenues for treating rare types in the future. […] Furthermore, the congenital adrenal hyperplasia pipeline is very robust; many potential therapies are being investigated for the treatment of congenital adrenal hyperplasia, and it is safe to predict that the treatment space will significantly impact the congenital adrenal hyperplasia market during the forecast period.

• #88 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  Ongoing research and therapeutic trials exploring novel molecules like selective corticotropin-releasing factor type 1-receptor inhibitors, gene therapy, and ACAT-1 inhibitors are yielding promising outcomes. […] A novel extended therapy approach is being explored to address the long-term side effects, complications, and circadian rhythm insufficiency associated with glucocorticoids and mineralocorticoids. […] Although the current treatment primarily targets patients with 21-hydroxylase insufficiency, potential research on atypical CAH variations is expected to open avenues for treating rare types in the future. […] Furthermore, the congenital adrenal hyperplasia pipeline is very robust; many potential therapies are being investigated for the treatment of congenital adrenal hyperplasia, and it is safe to predict that the treatment space will significantly impact the congenital adrenal hyperplasia market during the forecast period.

• #89 Management challenges and therapeutic advances in congenital adrenal hyperplasia | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-022-00655-w

  Traditional biomarkers vary with glucocorticoid dose or time of day and are not adrenal-specific, reflecting the need for new biomarkers; for example, the biologically active 11-oxygenated androgens, which are elevated in CAH. […] Circadian glucocorticoid replacement and adjunct non-glucocorticoid therapies promise to enable glucocorticoid dose reduction; furthermore, the development of personalized gene and cellular therapies is under way.

• #90 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  Moreover, the anticipated introduction of emerging therapies with improved efficacy and a further improvement in the diagnosis rate are expected to drive the growth of the congenital adrenal hyperplasia market in the 7MM. […] However several factors may impede the growth of the congenital adrenal hyperplasia market. The diagnosis of non-classical CAH may not occur until a person begins to show symptoms in later stages of life. […] CAH can be misdiagnosed with other diseases such as Addison’s disease, Ovotesticular disorder, and Turner syndrome. […] Furthermore, gene therapy, while promising, is costly; moreover, the health system in most countries, including the US, is not set up for large one-time payments. […] In comparison to small molecules, gene therapies take a longer time for their approval, and the approval guidelines for gene therapies are not as well defined as those for small molecules or monoclonal antibodies.

• #91 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  Moreover, the anticipated introduction of emerging therapies with improved efficacy and a further improvement in the diagnosis rate are expected to drive the growth of the congenital adrenal hyperplasia market in the 7MM. […] However several factors may impede the growth of the congenital adrenal hyperplasia market. The diagnosis of non-classical CAH may not occur until a person begins to show symptoms in later stages of life. […] CAH can be misdiagnosed with other diseases such as Addison’s disease, Ovotesticular disorder, and Turner syndrome. […] Furthermore, gene therapy, while promising, is costly; moreover, the health system in most countries, including the US, is not set up for large one-time payments. […] In comparison to small molecules, gene therapies take a longer time for their approval, and the approval guidelines for gene therapies are not as well defined as those for small molecules or monoclonal antibodies.

• #92 Congenital Adrenal Hyperplasia Treatment Drug Market to Exhibit Immense Growth During the Study Period (2019-2032), Predicts DelveInsight

  https://www.prnewswire.com/news-releases/congenital-adrenal-hyperplasia-treatment-drug-market-to-exhibit-immense-growth-during-the-study-period-20192032-predicts-delveinsight-302020741.html

  Moreover, the anticipated introduction of emerging therapies with improved efficacy and a further improvement in the diagnosis rate are expected to drive the growth of the congenital adrenal hyperplasia market in the 7MM. […] However several factors may impede the growth of the congenital adrenal hyperplasia market. The diagnosis of non-classical CAH may not occur until a person begins to show symptoms in later stages of life. […] CAH can be misdiagnosed with other diseases such as Addison’s disease, Ovotesticular disorder, and Turner syndrome. […] Furthermore, gene therapy, while promising, is costly; moreover, the health system in most countries, including the US, is not set up for large one-time payments. […] In comparison to small molecules, gene therapies take a longer time for their approval, and the approval guidelines for gene therapies are not as well defined as those for small molecules or monoclonal antibodies.

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