Congenital adrenal hyperplasia

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

adrenogenital syndrome

Broader Terms

adrenal disorder, inborn metabolism disorder, sex development disorder, steroid metabolism disorder

Related Terms

adrenal hyperplasia, Cushing's syndrome

Scope Note

group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.

Facts (generated by robot; please edit if you find it inaccurate)

• Congenital adrenal hyperplasia is diagnosed by demonstration of excess cortisol precursors in the serum during an adrenal corticotropic hormone challenge.
• GeneDis Website for Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia is a human genetic disease caused due to mutations in the 3-beta HSD gene.
• What causes congenital adrenal hyperplasia? - Congenital adrenal hyperplasia is an inherited disorder.
• Home Congenital Adrenal Hyperplasia (CAH) Congenital Adrenal Hyperplasia (CAH) Programs that treat this condition Center for Perinatal Urology Endocrinology Program What is congenital adrenal hyperplasia? Congenital Adrenal Hyperplasia is the most common cause of ambiguous genitalia in newborns.
• Discussion Congenital adrenal hyperplasia is an inborn errror of metabolism with various clinical and biochemical features due to the different forms and follows autosomal recessive mode of inheritance10,11,12,13.

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