Congenital Hyperplasy of the suprarenals

The congenital hyperplasy of the suprarenals is a secondary pathology with a deficit of the synthesis of the Cortisol in the fasciculée zone of the corticosuprarenal gland .
The enzyme implied in more than 95% of the cases (majority pathology thus) is the 21-hydroxylase responsible for the tranformation of the Progestérone in Désoxycorticostérone.
In this article, the deficit in 21 hydroxylase will be the model of description of the congenital hyperplasy of the suprarenals. There exist two forms of deficit in 21 hydroxylase:

traditional Form with severe enzymatic deficit and néonatal beginning with two sub-types:

Form appearing by signs of virilisation to the birth (1/4 of the cases)
Form appearing by a Syndrome of salt loss with vital risk in the first weeks of life (3/4 of the cases)

nontraditional Form at late beginning and will present only signs of virilisation to puberty

Associated diseases

lipoid Hyperplasie congenital of the suprarenals

Etiology

Deficit in 21-hydroxylase

Change of the Gene CYP21A2 located on the Locus p21.3 of the Chromosome 6 coding the cytochrome P450 C21. Last nine changes are described responsible for 95% of the deficits in 21-hydroxylase.

Deficit in 3-beta-hydroxystéroïde déshydrogénase

Change of the Gene HSD3B2 located on the Locus p13.1 of the Chromosome 1 coding the cytochrome P450 C21.

Deficit in 11-beta-hydroxylase

Change of the Gene CYP11B1 located on the Locus q21 of the Chromosome 8 coding the cytochrome P450 C11.

Deficit in 17-alpha-hydroxylase

Change of the Gene CYP17A1 located on the Locus q24.3 of the Chromosome 10 coding the steroid 17 monooxygénase.

Incidence & Prevalence

Traditional form

the incidence is 1 on 15 000 births in Europe, but varies much according to the population:

1 out of 300 at certain tribes esquimos
1 out of 5000 in Saudi Arabia

Form nontraditional

1 out of 40 at Hispanic the
1 out of 50 at Slavic the

Description

Diagnosis

Private clinic

The congenital suspicion of the suprarenals appears when:

New-born female presenting signs of virilisation to the birth or because of the appearance of sign of virilisation, or presenting an early puberty.
New-born masculine presenting of the signs of early virilisation
Syndrome of salt loss appearing in the first four weeks of life

Biochemistry

Proportioning of the 17-OH-progesterone
Proportioning of the plasmatic activity Renin

Genetics

The study of the Caryotype must confirm the normality of the chromosomal formula

Various types of congenital hyperplasy of the suprarenals

Treatment

The treatment depends of course on the biological results and proportionings practiced at the time of the assessment of the disease.

Generally one will make up the deficit in glucocorticoïde by hydrocortisone. At the subjects of female sex, it is advisable cause a drop in the rate of androgens to avoid the virilisation. For example one will use a derivative of progesterone with action anti-androgen (Androcur for example).

Mode of transmission

recessive autosomic Transmission

Tracking with the birth

Since 1995, the tracking of the congenital hyperplasy of the suprarenals became systematic, by immunological radio operator proportioning of the 17 hydroxyprogestérone on the same blotting paper as for other trackings. Made 3 days of life, that makes it possible to make the diagnosis of it very early, before the syndrome of salt loss which usually occurs towards 2-3 weeks of life. The big number of forms infra-private clinics, justifies this systematic diagnosis.

the genetic Council

Family of a patient

Antenatal tracking

Sources

Site in French of information on the orphan rare diseases and drugs
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 201910 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005 Hyperplasie congenital of the suprarenals

Hyperplasie congenital of the suprarenals Hyperplasie congenital of the suprarenals

External bonds

congenital hyperplasy of the suprarenals on the site of French Association for the Tracking and the Prevention of the Handicaps of Child (AFDPHE)
Association Suprarenals http://www.surrenales.com

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