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Congenital Adrenal Hyperplasia



  • […] during late childhood, adolescence or adulthood) Clinical manifestations Two clinical subtypes exist: Salt-wasting type 67% of all classic forms Males present 7–14 days after birth with failure to thrive, dehydration, vomiting, and shock Females present[amboss.com]
  • May present in adolescence /early adulthood (nonclassic adrenal hyperplasia). May be severe and present in infancy (classic adrenal hyperplasia). 21-hydroxylase deficiency is the most common form ( 90%).[pedemmorsels.com]
  • No difference in age of presentation was noted between males and females ( p 0.541). The clinical presentation was significantly different between the CSW and SV groups, and between males and females in the CSW group ( p Conclusion.[samj.org.za]
  • It presents at puberty because of reduced adrenal androgen production ( hypogonadism ). Females with 17-hydroxylase deficiency present with delayed puberty : they do not menstruate, and breasts and pubic hair fail to develop.[dermnetnz.org]
  • Classic CAH usually present’s at birth or shortly after birth.[diurnal.co.uk]
  • Signs of adrenal crisis include: Poor feeding or appetite Vomiting Diarrhea Sleepiness Weak cry in infants Dehydration Low blood pressure Weight loss Poor growth General Symptoms Baby boys usually look normal at birth.[cincinnatichildrens.org]
  • Too little steroid hormone replacement results in high androgen levels with all its complications in addition to which patients have the symptoms of adrenal insufficiency such as fatigue and a risk of adrenal crisis.[diurnal.co.uk]
  • Benefits with an Endocrine Related Disorder - PEDIATRIC Patients » Helpful information about Applying for Disability Benefits with an Endocrine Related Disorder - ADULT Patients » Click here for member benefits or to join The MAGIC Foundation » "LIKE[magicfoundation.org]
Deepening of Voice
  • Signs of androgen excess may include early appearance of pubic hair and increase in growth velocity in both sexes, clitoral enlargement in girls, and penile enlargement and earlier deepening of voice in boys.[msdmanuals.com]
Salt Craving
  • Clinical features of 21-hydroxylase deficiency Acute adrenal insufficiency Due to lack of cortisol and aldosterone High blood pressure Salt-craving Dehydration Vomiting Genital ambiguity Due to excess androgens Affects females only Known as ‘female pseudohermaphroditism[dermnetnz.org]
  • Patients may complain of salt craving and lightheadedness due to dehydration. Excessive fludrocortisone treatment can lead to hypertension that is often asymptomatic in the pediatric population.[clinchem.aaccjnls.org]
  • Unstimulated, passive drool is the preferred method for collection of saliva when measuring the above analytes. To simplify the collection process, patients can be provided with large-bore straws to direct the saliva into collection containers.[clinchem.aaccjnls.org]
  • Body composition, bone density and fractures Glucocorticoids increase the fat mass and reduce muscle mass and bone density, while androgens have the opposite effect.[tidsskriftet.no]
  • Use of oral corticosteroids and risk of fractures. J Bone Miner Res. (2000) 15:993–1000. doi: 10.1359/jbmr.2000.15.6.993 PubMed Abstract CrossRef Full Text Google Scholar 46. Nebesio TD, Renbarger JL, Nabhan ZM, Ross SE, Slaven JE, Li L, et al.[frontiersin.org]
  • Manifestations seen in females are hirsutism, acne, anovulation and menstrual irregularities. Males (and some females) are asymptomatic. Hirsutism continues in adulthood and women can suffer from chronic anovulation and fertility problems.[orpha.net]
  • Tabs Content Clinical Overview Diagnosis Indications for Testing Ambiguous genitalia or unexplainable electrolyte results in infancy Premature sexual development in older children Hirsutism and irregular menses in adult females Laboratory Testing Initial[arupconsult.com]
  • Also useful as part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH.[mayocliniclabs.com]
  • Symptoms include hirsutism, acne, androgenic alopecia, anovulation, menstrual dysfunction, and infertility. In a multicenter study, the most common symptoms among adolescent and adult women were hirsutism (59%), oligomenorrhea (54%), and acne (33%).[frontiersin.org]
  • […] elevation of adrenocorticotropic hormone (ACTH) from the pituitary gland results in excessive androgen levels leading to virilization and menstrual irregularities in females; both males and females may also experience precocious puberty, short stature, hirsutism[neurocrine.com]
Thin Skin
  • Too much steroid hormone results in suppression of growth in children, weight gain, abdominal obesity, hypertension, thin skin, and later in life the risk of cardiovascular disease and osteoporosis.[diurnal.co.uk]
Increased Body Hair
  • Other manifestations of non-classic CAH include increased body hair, body odor, acne, menstrual problems, and/or infertility.[magicfoundation.org]


  • […] genetic counseling and prenatal diagnosis of adrenal hyperplasia Newborn screening programs for 21-hydroxylase deficiency may be lifesaving in an affected male infant who would otherwise be undetected until presentation with a salt-wasting crisis [5] See Workup[emedicine.medscape.com]
  • Aldosterone deficiency can lead to salt wasting, hyponatremia, and hyperkalemia.[msdmanuals.com]
  • […] classic CAH If nonclassic form is suspected in adult female, obtain 17-OHP at 0800 hours and during follicular phase of menstrual cycle Further evaluation should include assessment of salt wasting Serum sodium, potassium, and renin activity – expect hyponatremia[arupconsult.com]
  • Management is as follows: Patients with dehydration, hyponatremia, or hyperkalemia and a possible salt-wasting form of CAH should receive an IV bolus of isotonic sodium chloride solution (20 mL/kg or 450 mL/m 2 ) over the first hour, as needed, to restore[emedicine.medscape.com]
  • Aldosterone deficiency leads to Hyponatremia and Hyperkalemia. Cortisol deficiency leads to poor cardiac function, general insensitivity to catecholamines, and increased secretion of antidiuretic hormone.[pedemmorsels.com]
  • You should check a basic metabolic panel to assess for hyponatremia, hyperkalemia, acidosis, and hypoglycemia, which can be associated with adrenal insufficiency and salt wasting.[childrenscolorado.org]


  • Ongoing monitoring Treatment of CAH can be challenging. Excessive treatment with glucocorticoids can lead to stunted growth, excessive weight gain and other long-term problems such as osteoporosis.[chop.edu]
  • […] that one third of the mothers who received dexamethasone treatment during pregnancy would not elect treatment in a future pregnancy. 51 Current Recommendations for Prenatal Diagnosis and Treatment Prenatal diagnosis and treatment is performed most commonly[pediatrics.aappublications.org]
  • They may need treatment through a drip to replace fluid, salt and glucose. They will need long-term glucocorticoid treatment. What surgical treatment is available? Surgery is sometimes offered when a baby girl has unusual genitalia.[patient.info]
  • Moreover, the risk for poor treatment compliance, in case of multiple daily doses treatment regimens, should not be excluded.[clinicaltrials.gov]
  • With good treatment, girls and women with CAH can have regular menstrual cycles and have children. With good treatment, people with CAH should be healthy and have a normal life span. Treatment is life-long.[cincinnatichildrens.org]


  • The long-term prognosis for individuals with CAH is usually favorable, and with lifelong treatment, affected individuals typically have good health and normal lifespans.[sema4.com]
  • Prognosis With proper treatment patients may have a normal life expectancy. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis With adequate medical and surgical therapy, the prognosis is good. However, problems with psychological adjustment are common and usually stem from the genital abnormality that accompanies some forms of congenital adrenal hyperplasia.[emedicine.medscape.com]
  • Last updated: 12/27/2014 The long-term outlook ( prognosis ) for people with congenital adrenal hyperplasia (CAH) is usually good.[rarediseases.info.nih.gov]


  • Etiology In 90-95% of cases, CAH is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3 which encodes for an enzyme that controls cortisol and aldosterone production.[orpha.net]
  • Surg Pathol 2001;25:1443 ) Congenital lipoid adrenal hyperplasia: very rare, low cortisol and aldosterone secretion, high levels of ACTH, FSH, LH and plasma rennin; present with severe adrenal insufficiency in neonatal period; usually die in infancy Etiology[pathologyoutlines.com]
  • Phenotype strongly correlates with genotype and reflects residual activity if there is a milder mutation. “21-OH Deficiency” Image created by Lecturio Etiology of Congenital Adrenal Hyperplasia The disease results from genetic mutations and two copies[lecturio.com]
  • […] deficiency generally have ambiguous genitalia or female genitalia; they may be raised as girls and seek medical attention later in life because of hypertension or a lack of breast development Other findings Patients with aldosterone deficiency of any etiology[emedicine.medscape.com]


  • Summary Epidemiology The estimated prevalence is 1/10,000 and annual incidence ranges from 1/5,000 to 1/15,000.[orpha.net]
  • Epidemiology Race 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.[emedicine.medscape.com]
  • […] androstenedione, and testosterone Every 3 months during infancy and every 3-6 months thereafter For assessment of mineralocorticoid replacement Blood pressure measurement Plasma renin/renin activity Aldosterone and potassium levels may also be helpful Background Epidemiology[arupconsult.com]
  • License: CC BY 2.0 Epidemiology of Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia, or CAH, is the most frequent cause of Pseudohermaphroditism femininus (chromosomal and gonadal female, habitus male).[lecturio.com]
  • Epidemiology and genetics 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 ).[tidsskriftet.no]
Sex distribution
Age distribution


  • Pathophysiology CAH is a result of autosomal recessive defects in enzymes that are responsible for the production of cortisol.[amboss.com]
  • Cytochrome P450 oxidoreductase deficiency Hexose-6-phosphate dehydrogenase deficiency ( H6PD variant) PAPSS2 deficiency ( PAPSS2 variant) Congenital lipoid adrenal hyperplasia ( StAR variants) P450scc side chain cleavage enzyme deficiency ( CYP11A1 variant) Pathophysiology[arupconsult.com]
  • Pathophysiology of Congenital Adrenal Hyperplasia Due to the defect in 21-hydroxylase, cortisol is not produced or is only produced to some extent. Thus, the disease may vary in phenotypic presentation depending on the amount of secreted hormone.[lecturio.com]
  • VIVO Pathophysiology Congenital adrenal hyperplasias (CAH) are a group of heritable disorders associated with an inability or deficiency in the ability to produce cortisol.[vivo.colostate.edu]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The cause of congenital adrenal hyperplasia (CAH) is an inherited genetic defect that results in decreased formation of 1 of[mayocliniclabs.com]


  • Consequently, the clinical consequences of CAHs arise from an insufficiency of certain corticosteroids and excesses of others. 21-hydroxylase Deficiency Biochemistry Defects of 21-hydroxylase prevent synthesis of aldosterone and cortisol.[pathwaymedicine.org]
  • It must be taken daily throughout life to prevent effects of CAH.[newbornscreening.info]
  • […] female fetus with classic CAH, whereas therapy after that time would prevent progression of virilization.[pediatrics.aappublications.org]
  • It cannot identify pregnancies that require treatment so it cannot prevent treatment in female foetuses that are unaffected or carriers.[analesdepediatria.org]
  • Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. John Wiley and Sons. pp. 600–. ISBN 978-1-4051-9087-9. Retrieved 14 June 2010. Richard D. McAnulty, M.[en.wikipedia.org]

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