[…] 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]

Presentation can vary from mild (failure to thrive) to catastrophic (sudden infant death). [bettersafercare.vic.gov.au]

• Short Stature

  stature, hirsutism, acne and fertility problems. [neurocrine.com]

  Too much medication can lead to various problems, such as poor linear growth, short stature, weight gain, reduced bone density, and elevated blood pressure. [magicfoundation.org]

  These can appear at any time, from infancy through adulthood, and can include: Rapid growth in early childhood, followed short stature as an adult Excessive hair growth (hirsutism) Acne Irregular menstrual periods in females Infertility In addition to [dartmouth-hitchcock.org]

  Premature pubarche can be seen in children as well as accelerated growth velocity and accelerated skeletal maturation (leading to short stature in adulthood). NCAH is often not diagnosed until adolescence when the first symptoms appear. [orpha.net]

  […] during neonatal period Ambiguous genitalia in females, virilization in males Salt wasting in majority of patients ( hyperkalemia, hyponatremia, dehydration) Nonclassic (late onset) No neonatal genital ambiguity Hirsutism Irregular menses in females Short [arupconsult.com]

• Precocious Puberty

  puberty at age 2–4 Females present with ambiguous genitalia Normal external genitalia at birth in both genotypes Precocious puberty Acne Infertility Females may also have irregular menstrual cycles or hirsutism May even be asymptomatic Ethnic predisposition [amboss.com]

  In childhood the main challenge is controlling excessive growth and precocious puberty and if this is not well controlled then patients will have an early puberty and ultimately short stature. [diurnal.co.uk]

  This causes virilisation in girls and adrenocortical insufficiency and precocious puberty in both sexes. In this article we describe the genetics, clinical picture, diagnostics and treatment. [tidsskriftet.no]

  The classic presentation of CAH includes ambiguous genitalia, precocious puberty, and excessive facial hair, and in severe cases includes inadequate adrenal aldosterone secretion that can result in fatal salt-wasting crises. [sema4.com]

  puberty, short stature, hirsutism, acne and fertility problems. [neurocrine.com]

• Asymptomatic

  Males (and some females) are asymptomatic. Hirsutism continues in adulthood and women can suffer from chronic anovulation and fertility problems. [orpha.net]

  […] from lack of aldosterone production), acidosis, cardiovascular collapse and death Simple virilizing syndrome: easier to detect in females (clitoral hypertrophy) than males Non-classic virilizing syndrome: more common than simple virilizing syndrome; asymptomatic [pathologyoutlines.com]

  Males present with precocious puberty at age 2–4 Females present with ambiguous genitalia Normal external genitalia at birth in both genotypes Precocious puberty Acne Infertility Females may also have irregular menstrual cycles or hirsutism May even be asymptomatic [amboss.com]

  If asymptomatic, no treatment is required. If symptomatic, corticosteroid treatment is similar to classic 21-hydroxylase deficiency, but lower doses are often effective. Mineralocorticoid replacement is not needed. [merckmanuals.com]

• Falling

  Term infants 0-28 days: Levels fall from newborn ( Prepubertal males: Prepubertal females: Adults Males: Females Follicular: Luteal: Postmenopausal: Note: For pregnancy reference ranges, see: Soldin OP, Guo T, Weiderpass E, et al: Steroid hormone levels [mayocliniclabs.com]

  By the third day, however, levels in healthy infants fall, and those in affected infants rise to clearly diagnostic levels. Ill, unaffected infants and premature infants may have elevated levels of 17-OHP. [pediatrics.aappublications.org]

  Additionally, during puberty, the half-life of hydrocortisone falls by 50% as a result of increased IGF-1 levels, which diminishes 11βOHSD activity, as well as due to increased cortisol clearance stemming from amplification of glomerular filtration rate [frontiersin.org]

• Hypertension

  We also present the case of a 15-year-old man (46, XX) with resistant hypertension due to 11-beta hydroxylase deficiency (11OHD) who underwent bilateral adrenalectomy for control of hypertension. [nature.com]

  Hypertension occurs in about two thirds of patients with CYP11B1 deficiency and distinguishes it from CYP21A2 deficiency, which causes hypotension. [merckmanuals.com]

  […] other pathways and causing elevated ACTH levels and adrenocortical hyperplasia Clinical features Usually children, rarely adults; no gender preference Symptoms depend on specific defect; include salt wasting, virilization, adrenogenital syndrome and hypertension [pathologyoutlines.com]

  Deficiency of 17-hydroxylase leads to deficiency of estrogens and androgens and to excess deoxycorticosterone, causing sexual infantilism and hypertension. [britannica.com]

• Hirsutism

  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]

  Some children present later, with sexual precocity or, in females, menstrual irregularities and hirsutism. [merckmanuals.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]

[…] 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]

• Hyponatremia

  Aldosterone deficiency can lead to salt wasting, hyponatremia, and hyperkalemia (1, 2). [merckmanuals.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]

• Adrenocortical Hyperplasia

  Two principal effects result from the enzyme deficiency: deficient cortisol and/or aldosterone production excess precursor steroids In response, there is increased ACTH secretion from the anterior pituitary producing adrenocortical hyperplasia. [gpnotebook.co.uk]

  Definition / general Various autosomal recessive syndromes due to enzyme deficiencies in biosynthesis of adrenal steroids, diverting production to other pathways and causing elevated ACTH levels and adrenocortical hyperplasia Clinical features Usually [pathologyoutlines.com]

  CAH is sometimes also called: 21-hydroxylase deficiency 21-OH deficiency Adrenogenital syndrome (AG syndrome) C-21-hydroxylase deficiency Congenital adrenocortical hyperplasia Salt-losing CAH The nonclassic form of CAH is sometimes also called: Attenuated [newbornscreening.info]

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]

Moreover, the risk for poor treatment compliance, in case of multiple daily doses treatment regimens, should not be excluded. [clinicaltrials.gov]

[…] 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]

Treatment of Classic CAH The goals of treatment are to ensure proper hormone levels and promote normal growth, and sexual development and sexual function. [hormone.org]

Treatment General treatment and follow-up Follow-up of the patients is focused on hormonal as well as psychological factors at all life stages. In newborns, key issues relate to diagnostics, sex determination and avoiding adrenal crises. [tidsskriftet.no]

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]

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]

[…] 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]

The aim is to prevent neonatal death, determine the sex and prevent precocious puberty. Since neonatal screening was introduced in Sweden, more children have been diagnosed with the salt-wasting form of the condition, and more have survived ( 2 ). [tidsskriftet.no]