Overview
What is congenital adrenal hyperplasia (CAH)?
What determines the clinical phenotype of congenital adrenal hyperplasia (CAH)?
What is the clinical presentation of congenital adrenal hyperplasia (CAH) in females?
What is the clinical presentation of congenital adrenal hyperplasia (CAH) in males?
What are the signs and symptoms of congenital adrenal hyperplasia (CAH)?
How is congenital adrenal hyperplasia (CAH) diagnosed?
What is the role of imaging studies in the diagnosis of congenital adrenal hyperplasia (CAH)?
What is the role of genetic testing in the diagnosis of congenital adrenal hyperplasia (CAH)?
What are the signs and symptoms of salt wasting in congenital adrenal hyperplasia (CAH)?
How is congenital adrenal hyperplasia (CAH) managed?
What is the role of corrective surgery in the treatment of congenital adrenal hyperplasia (CAH)?
What is congenital adrenal hyperplasia (CAH)?
How is the phenotype of congenital adrenal hyperplasia (CAH) determined?
How does congenital adrenal hyperplasia (CAH) occur?
What is the most common form of congenital adrenal hyperplasia (CAH)?
What is the prevalence of congenital adrenal hyperplasia (CAH) in the US?
What is the global prevalence of congenital adrenal hyperplasia (CAH)?
How is the clinical phenotype identified in congenital adrenal hyperplasia (CAH)?
What are the racial predilections of congenital adrenal hyperplasia (CAH)?
What are the sex-related predilections of congenital adrenal hyperplasia (CAH)?
At what age is congenital adrenal hyperplasia (CAH) typically diagnosed?
What is the prognosis of congenital adrenal hyperplasia (CAH)?
What information about congenital adrenal hyperplasia (CAH) should patients and caregivers receive?
Presentation
What determines the clinical phenotype of congenital adrenal hyperplasia (CAH)?
What is the clinical presentation of congenital adrenal hyperplasia (CAH) in females?
What is the clinical presentation of congenital adrenal hyperplasia (CAH) in males?
What causes hypoglycemia and hypotension in congenital adrenal hyperplasia (CAH)?
What are the symptoms of CYP17A1 defects in congenital adrenal hyperplasia (CAH)?
How is the 17-hydroxylase deficiency form of congenital adrenal hyperplasia (CAH) characterized?
What is the presentation of aldosterone deficiency in congenital adrenal hyperplasia (CAH)?
What causes variance in the physical findings of congenital adrenal hyperplasia (CAH)?
Which physical findings are characteristic of congenital adrenal hyperplasia (CAH)?
What are the causes of congenital adrenal hyperplasia (CAH)?
DDX
What are the differential diagnoses for Congenital Adrenal Hyperplasia?
Workup
How is congenital adrenal hyperplasia (CAH) diagnosed?
What urinary findings suggest congenital adrenal hyperplasia (CAH)?
Which lab findings suggest salt-wasting forms of congenital adrenal hyperplasia (CAH)?
What is the role of imaging studies in the diagnosis of congenital adrenal hyperplasia (CAH)?
What is the role of pelvic ultrasonography in the diagnosis of congenital adrenal hyperplasia (CAH)?
What is the role of urogenitography in the diagnosis of congenital adrenal hyperplasia (CAH)?
What is the role of a bone-age study in the diagnosis of congenital adrenal hyperplasia (CAH)?
What is the role of karyotyping in the diagnosis of congenital adrenal hyperplasia (CAH)?
When is genetic testing indicated in the diagnosis of congenital adrenal hyperplasia (CAH)?
What is the benefit of newborn screening for congenital adrenal hyperplasia (CAH)?
What are the histologic features of congenital adrenal hyperplasia (CAH)?
What is the significance of lipoid deposits in congenital adrenal hyperplasia (CAH)?
What are the histologic findings of salt wasting in congenital adrenal hyperplasia (CAH)?
Treatment
How is congenital adrenal hyperplasia (CAH) managed in infants and children?
What are the Endocrine guidelines for the medical care of congenital adrenal hyperplasia (CAH)?
What dietary restrictions are helpful in the treatment of congenital adrenal hyperplasia (CAH)?
Which activity restrictions are needed for patients with congenital adrenal hyperplasia (CAH)?
What are complications of congenital adrenal hyperplasia (CAH)?
What is the risk of hypertension in children with congenital adrenal hyperplasia (CAH)?
Why do patients with congenital adrenal hyperplasia (CAH) have a decreased fertility rate?
What are the complications in males with uncontrolled congenital adrenal hyperplasia (CAH)?
When is prenatal testing indicated for congenital adrenal hyperplasia (CAH)?
What is included in the prenatal treatment of congenital adrenal hyperplasia (CAH)?
How are neonates screened for congenital adrenal hyperplasia (CAH)?
How are patients with congenital adrenal hyperplasia (CAH) monitored?
What is the role of puberty in the management of congenital adrenal hyperplasia (CAH)?
Medications
What is the treatment for hypoglycemia in congenital adrenal hyperplasia (CAH)?
What medications are used to treat adrenal insufficiency in congenital adrenal hyperplasia (CAH)?
How are mineralocorticoids administered for the treatment of congenital adrenal hyperplasia (CAH)?
What is the goal of therapy for congenital adrenal hyperplasia (CAH)?
What is the role of hydrocortisone in the treatment of congenital adrenal hyperplasia (CAH)?
How is prednisone used in the treatment of congenital adrenal hyperplasia (CAH)?
How is mineralocorticoid deficiency managed in congenital adrenal hyperplasia (CAH)?
How should stress be treated in patients with congenital adrenal hyperplasia (CAH)?
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Enzymes and genes involved in adrenal steroidogenesis.
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Steroidogenic pathway for cortisol, aldosterone, and sex steroid synthesis. A mutation or deletion of any of the genes that code for enzymes involved in cortisol or aldosterone synthesis results in congenital adrenal hyperplasia. The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the severity of the genetic deletion or mutation.
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A female patient with the 46,XX karyotype with mild virilization due to congenital virilizing adrenal hyperplasia secondary to 21-hydroxylase deficiency. Despite the mild clitoromegaly, this patient has fusion of the labial-scrotal folds and salt wasting.
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Severe virilization in a female patient with the 46,XX karyotype with congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. This patient also has salt wasting.
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Short stature in a male patient with congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. His compliance with medical therapy was poor, and early growth and skeletal maturation was advanced, resulting in early puberty and completion of growth. This 12-year-old boy has reached final adult height, which is well below that of his mother.