Congenital adrenal hyperplasia

This page contains general information about Congenital adrenal hyperplasia. For more information on specific types, please visit the pages on 21-hydroxylase deficiency, 17a-Hydroxylase deficiency, 11β-hydroxylase deficiency, 3-beta-hydroxysteroid dehydrogenase, Cytochrome P450-oxidoreductase (POR) deficiency (ORD), congenital lipoid adrenal hyperplasia, cholesterol side-chain cleavage enzyme deficiency .

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

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Synonyms and keywords: Congenital adrenal hyperplasia, CAH, Adrenal hyperplasia

Overview

Pathophisiology

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		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	Increased: 17-OHP Progesterone Androstenedione DHEA Decreased: Aldosterone Corticosterone (salt-wasting) Cortisol (simple virilizing)	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	Increased: 17-OHP Exaggerated androstene-dione, DHEA, and 17-OHP 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

Complications

Screening

Diagnosis

Prevention

References