Congenital adrenal hyperplasia classification

Congenital adrenal hyperplasia main page
Overview
Classification 21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia
Differential Diagnosis

Classification

Congenital adrenal hyperplasia is classified into seven types based on the genetic causes that lead to hyperplasia and hormonal imbalance.

Disease		History and symptoms		Laboratory findings			Defective gene
		Blood pressure	Genitalia	Increased	Decreased	K levels
21-hydroxylase deficiency	Classic type	Low in salt-wasting Normal in non-salt-wasting	Female: ambiguous Male: normal or scrotal pigmentation and large phallus	Deoxycorticosterone 11-Deoxy-cortisol 17-hydroxyprogesterone, mild elevation	Cortisol Corticosterone Aldosterone	High in salt wasting type Normal in non salt wasting	CYP21A1 and CYP21A2 gene
	Non-classic type	Normal	Female: virilization after puberty Male: normal appearance	17-hydroxyprogesterone Exaggerated Androstenedione, DHEA, and 17-hydroxyprogesterone response to ACTH		Normal	CYP21A1 and CYP21A2 gene
17a-Hydroxylase deficiency		Hypertension	Female: normal Male: ambiguous	Increased DOC, corticosterone Decreased 17OH-steroids, cortisol, aldosterone, androgens and estrogens		Low	CYP17A1
11β-hydroxylase deficiency		Hypertension	Female: ambiguous Male: normal or scrotal pigmentation and large phallus	Indreased DOC, 11-deoxycortisol Decreased corticosterone, cortisol, aldosterone, androgens		Low	CYP11B1
3-beta-hydroxysteroid dehydrogenase				Increased: DHEA 17-OH pregneno-lone Pregnenolone Decreased: Cortisol Aldosterone		High
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Congenital lipoid adrenal hyperplasia
Cholesterol side-chain cleavage enzyme deficiency