Congenital Adrenal Hyperplasia Questions & Answers

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Questions & Answers

Overview

What is congenital adrenal hyperplasia (CAH)?

What are the Endocrine Society's clinical practice treatment guidelines for congenital adrenal hyperplasia (CAH)?

What are the Endocrine Society's clinical practice guidelines for the surgical care of 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 do cortisol and aldosterone deficiencies affect the clinical manifestation of 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)?

What is the steroidogenic pathway of cortisol, aldosterone, and sex steroid synthesis in congenital adrenal hyperplasia (CAH)?

How is the clinical phenotype identified in congenital adrenal hyperplasia (CAH)?

Which factors increase the risks of hospitalization in patients with congenital adrenal hyperplasia (CAH)?

How may congenital adrenal hyperplasia (CAH) affect the brain's structure, and what are the mortality risk factors for 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?

Which medical conditions suggest adrenal insufficiency related to congenital adrenal hyperplasia (CAH)?

What causes hypoglycemia and hypotension in congenital adrenal hyperplasia (CAH)?

What are the symptoms of the virilizing 21-hydroxylase deficiency or 11-hydroxylase deficiency forms of 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 is the presentation of the 11-hydroxylase deficiency form of congenital adrenal hyperplasia (CAH)?

What are the symptoms of the StAR deficiency (lipoid adrenal hyperplasia) form of 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?

How is 11-beta-hydroxylase deficiency identified in the evaluation of congenital adrenal hyperplasia (CAH)?

What urinary findings suggest congenital adrenal hyperplasia (CAH)?

How is 3-beta-hydroxysteroid dehydrogenase deficiency identified in the evaluation of congenital adrenal hyperplasia (CAH)?

Which lab findings suggest salt-wasting forms of congenital adrenal hyperplasia (CAH)?

Which is the role of synthetic corticotropin stimulation testing in the evaluation 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 are the indications for surgical intervention in the treatment of congenital adrenal hyperplasia (CAH)?

What is the prognosis of reconstructive surgery in children with congenital adrenal hyperplasia (CAH)?

What is the role of bilateral adrenalectomy in the treatment of congenital adrenal hyperplasia (CAH)?

What are the Endocrine Society's guidelines for the surgical treatment of congenital adrenal hyperplasia (CAH)?

Which specialist consultations are needed for the management 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)?

What causes short stature in patients with congenital adrenal hyperplasia (CAH), and what affect may CAH treatment have on bone mineral density?

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 an indicator of excess exposure to glucocorticoids in the treatment of congenital adrenal hyperplasia (CAH)?

What is the role of puberty in the management of congenital adrenal hyperplasia (CAH)?

Medications

What is the role of sodium chloride solution in the treatment of congenital adrenal hyperplasia (CAH)?

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)?

Which medications in the drug class Mineralocorticoids are used in the treatment of Congenital Adrenal Hyperplasia?

Which medications in the drug class Glucocorticoids are used in the treatment of Congenital Adrenal Hyperplasia?