Materiały źródłowe

• #1 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from defective steroidogenesis. […] The most common enzyme deficiency that accounts for more than 90% of all CAH cases is 21-hydroxylase deficiency (21OHD). […] Classical CAH occurs in 1:13,000 to 1:15,000 live births. […] Diagnosis of CAH must be suspected in infants born with ambiguous genitalia. […] The diagnosis and rational decision of sex assignment must rely on the determination of genetic sex, the hormonal determination of the specific deficient enzyme, genotype, and an assessment of the patient’s potential for future sexual activity and fertility. […] Diagnosis of the 21-OHD CAH can also be confirmed biochemically by a hormonal evaluation. […] Newborn screening for CAH, which utilizes 17 hydroxyprogesterone levels, is a useful tool for early detection of CAH prior to the development of adrenal crisis in the affected neonate. […] Prenatal testing for CAH in utero has historically utilized invasive techniques like amniocentesis and chorionic villus sampling which cannot be done prior to 14 weeks of gestation.

• #2 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia – 21-OHD CAH | Choose the Right Test

  https://arupconsult.com/content/congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders caused by certain distinct enzymatic defects that result in abnormalities in the balance of adrenal hormones in the body. Most cases of CAH are associated with CYP21A2 gene variants and result in 21-hydroxylase deficiency (21-OHD). Other rare forms of CAH are associated with different genetic and enzymatic defects (eg, 11 beta-hydroxylase deficiency, cytochrome P450 oxidoreductase deficiency, and others). […] […] In the United States, classic 21-OHD CAH is generally diagnosed early in life, as universal newborn screening includes laboratory testing for classic 21-OHD CAH. Nonclassic 21-OHD CAH is typically diagnosed after infancy. Laboratory testing, including serum hormone and electrolyte measurements, with or without molecular genetic testing, is key to the diagnosis and monitoring of both classic and nonclassic 21-OHD CAH. […]

• #3 Congenital adrenal hyperplasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/diagnosis-treatment/drc-20355211

  Healthcare professionals may find congenital adrenal hyperplasia (CAH): […] Tests to confirm whether a baby has CAH are done after the baby is born. […] In the United States and many other countries, newborns are routinely tested for 21-hydroxylase deficiency. The screening test is recommended during the first few days of life. This test can find the classic form of CAH. It doesn’t identify the nonclassic form. […] Tests to find CAH in children and adults include: […] Genetic testing may be needed to confirm if CAH is the cause of symptoms. […] Regular checkups are needed to make sure the medicines work well. […] It’s important to have regular blood tests to make sure that hormone levels are balanced. […] Treatment of CAH during pregnancy with lab-made corticosteroids that cross the placenta to the fetus are controversial and considered experimental. More research is needed to determine the long-term safety and the effect of this treatment on a baby’s brain.

• #4 Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia

  Classic CAH is the more serious form of the disease. It can cause adrenal complications such as shock and coma. If not found and treated early, it can be fatal. Diagnosis of classic CAH typically happens at birth. […] Your babys healthcare provider will screen them for CAH before they leave the hospital. This is part of the normal newborn screening. Your babys provider will do a blood test by pricking your newborns heel. This screening determines whether your baby has classic CAH. […] Diagnosis of nonclassic CAH may not occur until you or your child begin to show symptoms of the disease. In some cases, this may not happen until early adulthood. Your healthcare provider will diagnose nonclassic CAH through: Physical examination, Blood test, Urine test, Genetic testing.

• #5 Screening for Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/screening

  All newborns in the United States are screened for congenital adrenal hyperplasia, a condition involving abnormal levels of certain hormones produced by the adrenal glands. […] Screening for congenital adrenal hyperplasia occurs when your baby is between two and four days old. […] The laboratory measures the amount of 17-hydroxyprogesteronea hormone known as 17-OHP thats converted to cortisol with the help of an enzyme called 21-hydroxylase. A high amount of 17-OHP may mean your baby does not produce enough 21-hydroxylase and has congenital adrenal hyperplasia. […] Doctors at Hassenfeld Childrens Hospital at NYU Langone use the results of this screening test to identify babies who may be at risk for the salt-wasting form of classic congenital adrenal hyperplasia, the most common type. […] Information from the screening test also helps doctors make a diagnosis in girls who are born with ambiguous genitals, which may result from excess androgen production. Doctors perform additional tests to diagnose the condition and determine which treatment, if any, may be needed.

• #6 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

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

  Most males show no signs of CAH at birth. However, some may present with hyperpigmentation and penile enlargement, while those with salt-wasting disease often present early with hyponatremia and hypovolemia. […] In the United States and many developed countries, newborns are screened for 21-OH deficiency CAH between 2 to 4 days after birth. […] A 2-tier diagnostic approach is recommended for CAH. The initial screening involves measuring 17-OHP levels to identify 21-OH deficiency. […] If the result is positive, a repeat 17-OHP test should be conducted along with a serum electrolyte panel. […] Classic 21-OH deficiency typically results in 17-OHP levels exceeding 10,000 ng/dL, whereas nonclassic and rarer forms usually exhibit levels between 1000 and 10,000 ng/dL. […] For cases with mild elevation of 17-OHP, either second-tier liquid chromatography-tandem mass spectrometry (LC-MS/MS) testing or cosyntropin stimulation testing should be performed before initiating steroid treatment. […] If 17-OHP levels are ambiguous (200-1000 ng/dL) or other enzyme defects, such as 11-OH, 3-HSD-2, 17-OH, or POR are suspected, cosyntropin stimulation testing should be performed. […] The diagnosis of POR deficiency is based on the impaired activity of both CYP21A2 and CYP17A1.

• #7 Congenital adrenal hyperplasia | Newborn Screening

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

  Newborn screening for CAH is done using a small amount of blood collected from your babys heel. […] During screening, a special machine measures how much of a certain substance (called 17-OHP) is in your babys blood. This is a substance that builds up when the body does not produce enough cortisol. Babies with high levels of 17-OHP might have CAH due to 21-OHD. […] If your babys blood spot screening result for 17-OHP is out-of-range, your babys health care provider will contact you. Together, you will discuss next steps and follow-up plans. […] An out-of-range screening result does not mean that your baby definitely has the condition. It does mean that your baby needs more follow-up testing. […] You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems soon after birth if they are not diagnosed and treated quickly.

• #8 Congenital adrenal hyperplasia (CAH) in neonates | Safer Care Victoria

  https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/congenital-adrenal-hyperplasia-cah-in-neonates

  This metabolite is normally elevated in the fetus during the last trimester and immediately postpartum, therefore results are difficult to interpret in premature infants and term infants less than three days of age. […] Ideally, assessment of 17OHP levels should be deferred until after day 3 of age. […] Gender assignment should be avoided until a clear diagnosis is made. […] There is no cure for CAH, but medications (glucocorticoids and mineralocorticoids) are effective in managing the condition.

• #9 Congenital Adrenal Hyperplasia | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/congenital-adrenal-hyperplasia-cah/congenital-adrenal-hyperplasia-a

  Your baby had a blood test shortly after birth to look for a number of inherited medical conditions which require early treatment. The purpose of this newborn screening test is to detect disorders before they can cause problems for your child. Your baby had a positive test for one these disorders: it is called congenital adrenal hyperplasia, or CAH. This booklet is provided to tell you about this disorder. […] First, an explanation of the screening test. The screening test does not prove that your baby has CAH. More tests will be needed to prove its presence. These blood tests can be performed by a children’s hormone specialist (a pediatric endocrinologist) experienced in the diagnosis and care of children with CAH. It is important to have your child tested as soon as possible. Untreated CAH can result in serious illness and, in some cases, death.

• #10 Congenital Adrenal Hyperplasia | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/congenital-adrenal-hyperplasia-cah/congenital-adrenal-hyperplasia-a

  It is important for you to know that CAH is a completely treatable medical condition. Other than having to take daily medication, the child with CAH can have a completely normal life. […] CAH results from three disturbances: Lack of cortisol, Lack of salt retaining hormone, Too much androgen. […] The adrenal glands of persons with CAH have insufficient amounts of one of the enzymes that is needed to manufacture cortisol. […] Some children with CAH are also unable to make enough aldosterone. These „salt wasters” lose large amount of salt in their urine. […] CAH is never „outgrown”; treatment is required for life. The treatment for CAH is by replacement with hormone medications. […] Both boys and girls need cortisol-like medication to control the excessive male-type hormone production.

• #11 Congenital Adrenal Hyperplasia Workup: Laboratory Studies, Imaging Studies, Other Tests

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

  The diagnosis of congenital adrenal hyperplasia depends on the demonstration of inadequate production of cortisol, aldosterone, or both in the presence of accumulation of excess concentrations of precursor hormones. […] For example, the distinguishing characteristic of 21-hydroxylase deficiency is a high serum concentration of 17-hydroxyprogesterone (usually 1000 ng/dL) and urinary pregnanetriol (metabolite of 17-hydroxyprogesterone) in the presence of clinical features suggestive of the disease (eg, salt wasting, clitoromegaly or ambiguous genitalia, precocious pubic hair, excessive growth, premature phallic enlargement in the absence of testicular enlargement, hirsutism, oligomenorrhea, female infertility). […] Likewise, 11-beta-hydroxylase deficiency is indicated by excess concentrations of 11-deoxycortisol and deoxycorticosterone or by an elevation in the ratio of 24-hour urinary tetrahydrocompound S (metabolite of 11-deoxycortisol) to tetrahydrocompound F (metabolite of cortisol).

• #12 Congenital Adrenal Hyperplasia Workup: Laboratory Studies, Imaging Studies, Other Tests

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

  Both forms of adrenal hyperplasia are accompanied by elevated levels of 24-hour urinary 17-ketosteroids, the urinary metabolites of adrenal androgens. […] 3-beta-hydroxysteroid dehydrogenase deficiency is indicated by an abnormal ratio of 17-hydroxypregnenolone to 17-hydroxyprogesterone and dehydroepiandrosterone to androstenedione. […] Salt-wasting forms of adrenal hyperplasia are accompanied by low serum aldosterone concentrations, hyponatremia, hyperkalemia, and elevated plasma renin activity (PRA), indicating hypovolemia. […] In contrast, hypertensive forms of adrenal hyperplasia (ie, 11-beta-hydroxylase deficiency and 17-alpha-hydroxylase deficiency) are associated with suppressed PRA and, often, hypokalemia. […] Subtle forms of adrenal hyperplasia (as in nonclassic forms of 21-hydroxylase deficiency and nonclassic 3-beta-hydroxysteroid dehydrogenase deficiency) often require a synthetic corticotropin (Cortrosyn) stimulation test to demonstrate the abnormal accumulation of precursor steroids.

• #13 Diagnosing Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/diagnosis

  Specialists at Hassenfeld Childrens Hospital at NYU Langone are experienced in diagnosing congenital adrenal hyperplasia, an inherited condition in which the adrenal glands produce abnormal levels of certain hormones, including cortisol and aldosterone. […] Our doctors diagnose the classic type of congenital adrenal hyperplasia with prenatal tests, as well as tests performed after a baby is born. The doctor may recommend additional tests to determine the type and severity of congenital adrenal hyperplasia your child has. […] Prenatal tests, such as amniocentesis or chorionic villus sampling, can be used to diagnose congenital adrenal hyperplasia in an unborn child. […] If prenatal tests suggest that your baby has congenital adrenal hyperplasia, your childs doctor examines the appearance of your newborns genitals and looks for signs of early sexual or physical development.

• #14 Diagnosing Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/diagnosis

  Your childs doctor may order blood tests to measure the hormones cortisol, aldosterone, and androgens, as well as their chemical precursorswhich help produce these substancessuch as the hormone 17-OHP. […] An ACTH stimulation test is used to diagnose congenital adrenal hyperplasia and determine the type your child has. […] Doctors may recommend a blood test to look for the presence or absence of, or a mutation in, the gene that helps produce the enzyme 21-hydroxylase, which is needed to produce cortisol and aldosterone. […] Doctors may use a urine test to determine how much sodium and potassium your child is eliminating. […] Our physicians may recommend a karyotype test for a baby or child with ambiguous genitals. […] If your newborn child has ambiguous genitals, a doctor may order a pelvic ultrasound and other imaging studies to determine whether the childs internal sexual organs are male or female. […] Bone age studies, which are X-rays of growth plates in the wrists, hands, and pelvis, may be used to determine if an infant or child has advanced skeletal development for his or her age.

• #15 Congenital Adrenal Hyperplasia Workup: Laboratory Studies, Imaging Studies, Other Tests

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

  Imaging studies of the adrenal gland are generally not useful in the evaluation of patients with suspected adrenal hyperplasia. […] However, computed tomography (CT) scanning of the adrenal gland can be useful in excluding bilateral adrenal hemorrhage in patients with signs of acute adrenal failure without ambiguous genitalia or other clues of adrenal hyperplasia. […] A karyotype is essential in the evaluation of an infant with ambiguous genitalia to establish the patient’s chromosomal sex. […] Genetic testing is rarely necessary to diagnose classic forms of adrenal hyperplasia but is essential for genetic counseling and prenatal diagnosis of adrenal hyperplasia. […] Newborn screening programs for 21-hydroxylase deficiency should be encouraged as they may be lifesaving in an affected male infant who would otherwise be undetected until presentation with a salt-wasting crisis. […] Histologic features of congenital adrenal hyperplasia include hyperplasia of the adrenal cortex and disorganized architecture of both the adrenal cortices and medullae.

• #16 Congenital Adrenal Hyperplasia: Symptoms, Diagnosis, and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/congenital-adrenal-hyperplasia-symptoms-diagnosis-and-treatment/

  The presence of mutations in the CYP21A2 gene confirms a diagnosis of CAH. Different mutations can result in varying degrees of enzyme deficiency, which helps classify the severity of the condition. If genetic testing does not reveal any mutations, but symptoms persist, other forms of CAH caused by mutations in different genes may be considered. Further testing may be needed to explore other adrenal or hormonal disorders. […] The ACTH (adrenocorticotropic hormone) stimulation test measures how well the adrenal glands respond to ACTH, a hormone that stimulates cortisol production. During the test, a synthetic form of ACTH is injected into the patient, and blood samples are taken before and after the injection to measure cortisol and 17-OHP levels. This test helps assess adrenal function and is often used to diagnose CAH in individuals with borderline or unclear test results.

• #17 Congenital Adrenal Hyperplasia: Symptoms, Diagnosis, and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/congenital-adrenal-hyperplasia-symptoms-diagnosis-and-treatment/

  In individuals with CAH, the adrenal glands are unable to produce sufficient cortisol in response to ACTH stimulation, and 17-OHP levels may rise significantly. A lack of cortisol response, combined with elevated 17-OHP levels, is indicative of CAH. If the test results are normal, but symptoms persist, other adrenal or hormonal disorders may need to be explored. […] If all diagnostic tests come back negative, but symptoms of CAH persist, it is important to consult with a healthcare provider for further evaluation. Other adrenal or hormonal disorders may be causing the symptoms, and additional testing or specialist referrals may be necessary. In some cases, a more detailed genetic analysis or advanced imaging studies may be required to identify the underlying cause of the symptoms.

• #18 Congenital Adrenal Hyperplasia: Causes and Treatment

  https://patient.info/hormones/congenital-adrenal-hyperplasia-leaflet

  Congenital adrenal hyperplasia is an inherited (genetic) condition causing swelling of the adrenal glands. […] How is congenital adrenal hyperplasia diagnosed? […] Blood tests are the first tests to be done. These may show a high level of the hormone 17-hydroxyprogesterone. Blood tests may also show that the levels of salts in the blood are outside the normal range. For example, you may have a low sodium level or a high potassium level. You may also have a low blood glucose level. […] If there is still doubt about the diagnosis, you may have to have a corticotropin stimulation test. Corticotropin is a hormone which stimulates the adrenal gland. You will have an injection of this hormone and a blood test an hour later to measure how your adrenals have responded. […] An ultrasound scan of the pelvis may be done on baby girls who have unusual-looking genitalia. This shows whether a womb (uterus) is present or absent and whether the kidneys look unusual.

• #19 Congenital Adrenal Hyperplasia: Not Really a Zebra | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0301/p1190.html

  Congenital adrenal hyperplasia is diagnosed by demonstration of excess cortisol precursors in the serum during an adrenal corticotropic hormone challenge. […] Diagnosis of congenital adrenal hyperplasia in fetuses that are at risk for congenital adrenal hyperplasia can be determined using human leukocyte antigen haplotype or by demonstration of excess cortisol precursors in amniotic fluid. […] When mild congenital adrenal hyperplasia is suspected, elevated serum levels of 17-hydroxyprogesterone suggest 21-hydroxylase deficiency, and elevated deoxycorticosterone/11-deoxycortisol levels suggest 11-hydroxylase deficiency. […] Corticosteroid replacement therapy must be approached carefully. Hydrocortisone dosages that return 17-hydroxyprogesterone/11-deoxycortisol levels to normal frequently induce Cushingoid features, whereas lower dosages may leave the effects of excess androgen production unchecked.

• #20 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia – 21-OHD CAH | Choose the Right Test

  https://arupconsult.com/content/congenital-adrenal-hyperplasia

  The diagnosis of classic 21-OHD CAH is established by the detection of elevated concentrations of serum 17-OHP and adrenal androgens (21-deoxycortisol, androstenedione, dehydroepiandrosterone [DHEA], progesterone, testosterone) and the detection of increased plasma renin activity in individuals with salt-wasting classic CAH. […] […] The diagnosis of nonclassic 21-OHD CAH is suggested by an elevated early morning serum 17-OHP and established by 17-OHP concentrations above cutoff values for the ACTH stimulation test. […] […] Molecular genetic testing may be appropriate in individuals diagnosed biochemically with either classic or nonclassic 21-OHD CAH. Molecular testing is also used to determine carrier status for 21-OHD CAH and assess for familial CYP21A2 variant(s) in at-risk family members or fetuses. […]

• #21 Comprehensive Overview of Congenital Adrenal Hyperplasia and its Genetic Diagnosis Among Children and Adolescents – Journal of Pediatric Endocrinology and Diabetes

  https://ispae-jped.com/comprehensive-overview-of-congenital-adrenal-hyperplasia-and-its-genetic-diagnosis-among-children-and-adolescents/

  Although baseline and ACTH-stimulated 17OHP measurements are routinely used as the biochemical markers for CAH, these results are often unreliable with false positivity requiring secondary confirmation with LC-MS and so far, cannot specify whether an individual is a homozygote or heterozygote. Therefore, genetic testing in CAH is highly advantageous to confirm the diagnosis of CAH and provide carrier screening. Genotyping CYP21A2 gene, implicated in 21OHD, the most common form of CAH is known to be extremely challenging due to a highly homologous pseudogene CYP21A1P present in proximity. […] The molecular complexity of CYP21A2 gene analysis is that one single technique cannot narrow down to the actual extent of mutation in 21OHD. While long range PCRs are efficient in amplifying the functional gene and to rule out large rearrangements, genotyping techniques are limited to the hotspot mutations. MLPA used for gene deletions and duplications cannot provide the actual extent of chimeras that arise due to rearrangements between CYP21A2 and CYP21A1P gene.

• #22 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  In individuals with congenital adrenal hyperplasia, we suggest genotyping only when results of the adrenocortical profile after a cosyntropin stimulation test are equivocal, or cosyntropin stimulation cannot be accurately performed (i.e., patient receiving glucocorticoid), or for purposes of genetic counseling.

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

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

  Genetic studies are highly recommended for all cases where biochemical analyses suggest CAH. These are also essential to confirm the diagnosis in difficult cases, as a critical determinant of prognosis, and to deliver accurate genetic counseling. […] In classic CAH, there is a strong genotype-to-phenotype correlation. However, in NCCAH, this correlation is not as strong. Consequently, NCCAH management should be primarily based on clinical and hormonal data.

• #24 Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/antenatal-diagnosis-and-treatment-in-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-and-congenital-adrenal-hyperplasia-screening-in-newborns/doi/jcrpe.galenos.2024.2024-6-10-S

  For the antenatal diagnosis of CAH, invasive procedures may be used, such as chorionic villus sampling (CVS) at 10-12 gw and amniocentesis (AS) at 16-20 gw. […] Advances in CYP21A2 genotyping are expected to make molecular analysis of fetal DNA the ideal diagnostic tool for fetuses at risk for 21-OHD. […] Non-invasive prenatal testing (NIPT), including cell-free fetal DNA (cffDNA), appears to be a promising technique for early diagnosis of 21-OHD. […] Fetal sex determination is a relatively straightforward procedure based on the presence or absence of Y chromosome sequences. […] Although antenatal sex determination can be performed by cffDNA using NIPT, the results obtained by this protocol should be confirmed by CVS and AS. […] Antenatal treatment of CAH, particularly 21-OHD, has been the focus of interest for many years. Nevertheless, this treatment is still considered controversial and experimental.

• #25 Congenital Adrenal Hyperplasia: Causes and Treatment

  https://patient.info/hormones/congenital-adrenal-hyperplasia-leaflet

  X-rays of a child’s bones are sometimes done to check the rate of development of the skeleton (the bone age). In CAH this rate may be faster than normal. […] If the baby’s sex is in doubt, a blood test to examine the sex genes in a single cell (a karyotype test) may be performed. […] Other tests to examine gene defects may also be necessary if the diagnosis is unclear. […] An unborn baby may be suspected of having classic CAH if both parents have been identified as carriers. In this case, tests are done to check the sex of the baby and whether it is affected. One test, called amniocentesis, involves taking a sample of the liquid surrounding the baby in the womb (the amniotic fluid). Another test, called villous sampling, involves taking a sample of placental tissue. Newer non-invasive tests have been developed.

• #26 Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/antenatal-diagnosis-and-treatment-in-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-and-congenital-adrenal-hyperplasia-screening-in-newborns/doi/jcrpe.galenos.2024.2024-6-10-S

  In the postnatal period, a severe deficiency of the 21-hydroxylase enzyme leads to life-threatening adrenocortical insufficiency in both sexes and varying degrees of pathology of the external genitalia in females. […] Neonatal screening for 21-OHD CAH effectively detects the severe forms and reduces mortality, and it is instrumental in the correct sex assignment of female cases. […] Accurate molecular genetic diagnosis is crucial to provide families with appropriate genetic counseling concerning future pregnancies. […] Several approaches for antenatal diagnosis of affected fetuses with CAH have been used. […] The hormonal diagnostic test for 21-OHD is amniotic fluid 17-hydroxyprogesterone (17-OHP) but hormonal diagnosis is rarely used and considered only when molecular diagnosis is unavailable.

• #27 Congenital adrenal hyperplasia

  https://dermnetnz.org/topics/congenital-adrenal-hyperplasia

  The diagnosis should be considered in infants presenting with acute adrenal insufficiency, with virilisation (females) or premature puberty (males). […] Initial tests in acute adrenal insufficiency reveal a salt-losing state. […] 21-hydroxylase deficiency is diagnosed by finding high levels of the following hormones in blood or urine: […] An adrenal ultrasound scan may be carried out if the baby’s genitals appear abnormal on birth. […] Genetic tests may be available to identify the specific genetic mutation. […] Genetic testing may be considered during pregnancy if an unborn infant is known to be at risk because a sibling is affected or if both parents are known to carry the abnormal gene. […] Prenatal diagnosis may also be made by finding increased levels of 17-hydroxyprogesterone in amniotic fluid at 14 weeks of gestation.

• #28 Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/antenatal-diagnosis-and-treatment-in-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-and-congenital-adrenal-hyperplasia-screening-in-newborns/doi/jcrpe.galenos.2024.2024-6-10-S

  Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns […] Signs of virilization, such as clitoromegaly, labio-scrotal fusion, and urogenital sinus may be observed in females with 21-hydroxylase deficiency (21-OHD) and other rare virilizing forms of congenital adrenal hyperplasia (CAH). This makes sex determination difficult, and multiple reconstructive surgeries in the postnatal period may be required. […] The primary objective of antenatal diagnosis is to identify only the affected fetus in the early gestational weeks before the onset of genital organogenesis and to treat that case. […] Antenatal steroid treatment is considered experimental and controversial for safety reasons in recent clinical guidelines.

• #29 Congenital Adrenal Hyperplasia – National Adrenal Diseases Foundation

  https://www.nadf.us/congenital-adrenal-hyperplasia-cah.html

  There are two types of CAH classic, which can be life threatening, and nonclassic, a milder form of the disorder. […] Classic CAH, usually first found in infancy or early childhood, is the most severe type of CAH. […] In many cases, female infants are diagnosed at birth because they have atypical or ambiguous genitalia (external sex organs that resemble male genitals). However, they still have normal internal female organs (ovaries and uterus). […] The goals of treatment are to help maintain balanced hormone levels and promote normal growth in children. Concerns in adult patients revolve more around reproductive function. […] Some patients have no symptoms and require no treatment. Others need low-dose glucocorticoids but might not need life-long treatment. Nonclassic CAH is not associated with genital abnormalities at birth and is not detected in most newborn screening programs. […] With proper care, people with either type of CAH can live long and healthy lives. In the meantime, researchers continue to explore better ways to diagnose and treat this condition.

• #30 Congenital Adrenal Hyperplasia | Endocrine Society

  https://www.endocrine.org/patient-engagement/endocrine-library/congenital-adrenal-hyperplasia

  Classic CAH is usually diagnosed in infancy or early childhood and is the most severe, life-threatening type. […] Newborns are screened for CAH with a blood test from a heel prick right after birth. Sometimes, when there is a known family history of CAH, a fetus is diagnosed before birth. Diagnosis may include: A history and physical examination, Blood test, Genetic test. […] Tests can be done to find out if someone is a carrier of CAH. […] With proper care, people with either type of CAH can live long and healthy lives. In the meantime, researchers continue to explore better ways to diagnose and treat this condition.

• #31 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

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

  Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive conditions caused by genetic mutations that disrupt enzymes responsible for producing glucocorticoids, mineralocorticoids, and sex steroids from cholesterol in the adrenal glands. […] Newborn screening programs measuring 17-hydroxyprogesterone levels have significantly improved early detection and outcomes by identifying nearly all infants with classic (severe) CAH due to 21-OH deficiency, along with some milder variants. […] This activity provides an overview of the evaluation, diagnosis, and management of congenital adrenal hyperplasia, emphasizing the importance of timely detection and treatment. […] CAH due to 21-OH deficiency is a common cause of ambiguous genitalia in genotypic female infants (46,XX).

• #32 Late-Onset Congenital Adrenal Hyperplasia Treatments

  https://www.verywellhealth.com/congenital-adrenal-hyperplasia-overview-2616550

  Late-onset congenital adrenal hyperplasia (LOCAH) is a milder form of „classic” congenital adrenal hyperplasia (CAH) with symptoms typically developing during puberty or early adulthood. […] It also explains how LOCAH is diagnosed and treated. […] LOCAH is typically explored when symptoms like premature pubarche, early balding in males, hirsutism, androgenic alopecia, or infertility cannot be explained by other causes. […] If LOCAH is suspected, the diagnosis would involve a review of your medical history, a physical exam, and blood tests to check for hormonal imbalances. […] Blood tests commonly used to diagnose LOCAH include: Serum testosterone: Used to detect hyperandrogenism; Serum cortisol: Used to check for cortisol deficiency (also known as adrenal insufficiency); 17-hydroxyprogesterone (17-OHP): This tests for the hormone that causes 21-hydroxylase deficiency. […] The ACTH stimulation test remains the gold standard for diagnosing congenital adrenal hyperplasia in all of its forms. […] The ACTH stimulation tests can also differentiate LOCAH from PCOS as females with PCOS often have normal adrenal gland function.

• #33 Nonclassical Congenital Adrenal Hyperplasia (NCAH): Symptoms and Treatment

  https://www.webmd.com/children/nonclassical-congenital-adrenal-hyperplasia

  How Is Nonclassical Congenital Adrenal Hyperplasia Diagnosed? Your doctor will test for hormone levels in the blood. […] If symptoms show up later in life, your doctor might conduct blood tests to check your adrenal steroid levels. You might also take an adrenocorticotropic hormone (ACTH) stimulation test. This is where your doctor tests your cortisol levels and then gives you a dose of ACTH. After an hour, they check your blood levels again. […] In normal test results, cortisol levels are high in response to the hormone. With NCAH, tests show high amounts of the compounds that make cortisol but low levels of cortisol. This means your adrenal system is having trouble making hormones.

• #34

  https://www.scielo.br/j/abem/a/dkX78dxmXZTSzbpJ6ycJpzM/

  Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. […] The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. […] Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. […] Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. […] The diagnosis is made with adrenocortical profile hormonal evaluation and genotyping in selected cases. […] Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present.

• #35

  https://www.scielo.br/j/abem/a/dkX78dxmXZTSzbpJ6ycJpzM/

  Thus, the authors aim to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography (GX), US, computed tomography (CT), and magnetic resonance imaging (MRI). […] Although the diagnosis of CAH is based on hormonal dosages and genetic analysis, imaging still has an important role in the management of these patients regarding a proper clinical setting. […] In addition to radiographs evaluating bone age included as a tool in the clinical follow-up, genitography, US, MRI, CT, and other imaging modalities add important information for diagnosis, follow-up, and surgical planning. […] The detection of TART is essential to be done as early as possible, as the patients can be monitored and treated more intensively, in order to prevent fertility impairment and testicles damage.

• #36 Congenital Adrenal Hyperplasia (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/congenital-adrenal-hyperplasia.html

  In congenital adrenal hyperplasia (CAH), a mutation (genetic change) causes the adrenal glands to make too little cortisol. […] A prenatal ultrasound scan may find CAH before a baby is born. But usually it’s suspected at birth or soon after based on symptoms (such as abnormal-appearing genitals) or the results of a newborn screening blood test that’s done on all newborns in the U.S. […] A specialist in pediatric endocrinology usually checks the baby to see which adrenal enzyme is missing and directs treatment. […] Tests that help confirm the diagnosis of CAH or guide treatment may include: blood tests to check levels of adrenal hormones, blood chemistry to check sodium and high potassium levels in children with salt-losing types of CAH, karyotype to determine chromosomal sex, imaging tests (such as an ultrasound study) to get more information about genital anatomy, X-rays to see how rapidly the bones mature.

• #37

  https://www.scielo.br/j/abem/a/dkX78dxmXZTSzbpJ6ycJpzM/

  Therefore, it should be used routinely and not only from adolescence. […] MRI is a problem solving for detailed depiction of pelvic structures when US in not sufficient, mainly in cases of ambiguous genitalia. […] It is recommended to evaluate TART before testes sparing surgery. […] Also, MRI can evaluate in detail adrenal nodules.

• #38 CAH21 – Overview: Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum

  https://www.mayocliniclabs.com/test-catalog/Overview/87815

  Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. […] This is the preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. It is also useful as part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH. […] Diagnosis and differential diagnosis of congenital adrenal hyperplasia (CAH) always requires the measurement of several steroids. Patients with CAH due to 21-hydroxylase gene (CYP21A2) variants usually have very high levels of androstenedione, often 5- to 10-fold elevations. 17-Hydroxyprogesterone (OHPG) levels are usually even higher, while cortisol levels are low or undetectable. All 3 analytes should be tested. […] Most (90%) cases of CAH are due to mutations in the 21-hydroxylase gene (CYP21A2). CAH due to 21-hydroxylase deficiency is diagnosed by confirming elevations of OHPG and androstenedione with decreased cortisol. By contrast, in 2 less common forms of CAH, due to 17-hydroxylase or 11-hydroxylase deficiency, OHPG and androstenedione levels are not significantly elevated and measurement of progesterone (PGSN / Progesterone, Serum) and deoxycorticosterone (DOCS / 11-Deoxycorticosterone, Serum), respectively, are necessary for diagnosis.

• #39 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. […] In infants with positive newborn screens for congenital adrenal hyperplasia we recommend referral to pediatric endocrinologists (if regionally available) and evaluation by cosyntropin stimulation testing as needed. […] In symptomatic individuals past infancy, we recommend screening with an early-morning (before 8 AM) baseline serum 17-hydroxyprogesterone measurement by liquid chromatographytandem mass spectrometry. […] In individuals with borderline 17-hydroxyprogesterone levels, we recommend obtaining a complete adrenocortical profile (defined below) after a cosyntropin stimulation test to differentiate 21-hydroxylase deficiency from other enzyme defects and to make the diagnosis in borderline cases.

• #40

  https://corewellhealth.testcatalog.org/show/LAB848-36

  The goal of CAH treatment is normalization of cortisol levels and, ideally, of sex-steroid levels also. OHPG is measured to guide treatment, but this test correlates only modestly with androgen levels. Therefore, androstenedione and testosterone should also be measured and used to guide treatment modifications. Normal prepubertal levels may be difficult to achieve, but if testosterone levels are within the reference range, androstenedione levels up to 100 ng/dL are usually regarded as acceptable.

• #41 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. […] The age at diagnosis can provide some information about underlying mutations, with those diagnosed at birth/early infancy more likely to have severe enzymatic defects, which may include adrenal insufficiency, sexual development disorders, short stature in adulthood, hirsutism, and a higher risk for metabolic syndrome and infertility. […] 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.

• #42 Congenital Adrenal Hyperplasia | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/congenital-adrenal-hyperplasia-cah/congenital-adrenal-hyperplasia-a

  Some children will also need a salt-retaining hormone medication. […] With regular medication, your child with CAH can lead a normal life. There are no known intellectual disabilities associated with CAH. The life expectancy is normal. Women with CAH (if they take their medications as directed) have no difficulties becoming pregnant or carrying a baby, and men who take their medications appropriately have normal fertility.

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