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

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	Additional findings
		Blood pressure	Genitalia
21-hydroxylase deficiency	Classic type	Low in salt-wasting Normal in non-salt-wasting	Female: ambiguous Male: normal or scrotal pigmentation and large phallus
	Non-classic type	Normal	Female: virilization after puberty Male: normal appearance
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

Complications

• ==Screening==

Diagnosis

Criteria for the diagnosis of diabetes
FPG ≥126 mg/dL (7.0 mmol/L). Fasting is defined as no caloric intake for at least 8 h.
OR
2-h Plasma Glucose (PG) ≥200 mg/dL (11.1 mmol/L) during an OGTT. The test should be performed as described by the WHO, using a glucose load containing the equivalent of 75 g anhydrous glucose dissolved in water.
OR
A1C ≥6.5% (48 mmol/mol).
OR
In a patient with classic symptoms of hyperglycemia or hyperglycemic crisis, a random plasma glucose ≥200 mg/dL (11.1 mmol/L).

Gestational diabetes

There are 2 strategies to confirm the GDM diagnosis.

• One-step 75-g Oral glucose tolerance test (OGTT)

OR

• Two-step approach with a 50-g (nonfasting) screen followed by a 100-g OGTT for those who screen positive.

One Step Strategy=

Perform a 75 g glucose tolerance test in 24-28 weeks of pregnancy and read the measures 1 h and 2 h after glucose ingestion as well as fasting glucose. The OGTT should be performed in the morning after an overnight fast of at least 8 h. The diagnosis of GDM is made when any of the following plasma glucose values are met or exceeded:

• Fasting: 92 mg/dL (5.1 mmol/L)
• 1 h: 180 mg/dL (10.0 mmol/L)
• 2 h: 153 mg/dL (8.5 mmol/L)

Two Step Strategy

In this approach, screening with a 1 h 50-g glucose load test (GLT) followed by a 3 h 100-g OGTT for those who screen positive.

The diagnosis of GDM is made when at least 2 out of 4 measures of 3 h 100-g OGTT became abnormal.

• The following table summarizes the diagnostic approach for gestational diabetes.

	Cut off (mg/dl)
	Fasting	1 Hour	2 Hour	3 Hour
One step test 2 hour 75 g glucose tolerance test	92	180	153	----
Two step test 1 hour 50 g screening test	----	140	----	----
3 hour 100 g test if screening test became positive Carpenter/Coustan approach	95	180	155	140
National Diabetes Data Group (NDDG) approach	105	190	165	145

Prevention

Life style modification is the mainstay of prevention of diabetes mellitus. It includes, changes in diet, weight reduction and exercise. The strongest evidence for diabetes prevention comes from the Diabetes Prevention Program (DPP). The DPP demonstrated that an intensive lifestyle intervention could reduce the incidence of type 2 diabetes by 58% over 3 years.

References