DANIL HAMMOUDI.MD

SINOE MEDICAL ASSOCIATION

 

CONGENITAL ADRENAL HYPERPLASIA

 

****ETIOLOGY AND PATHOPHYSIOLOGY:

                DEFECT OF ONE OF THE ENZYMES THAT ARE NECESSARY FOR THE SYNTHESIS OF CORTISOL.

                Cortisol deficiency stimulate ACTH----> HYPERPLASIA OF THE ADRENAL CORTEX.

                Over production of whatever ACTH -dependent steroids are not affected by the enzyme deficiency (mainly adrenal androgens)

                                                                                ****clinical features:

-ANDROGEN EXCESS

-OTHER MANIFESTATIONS:

 

                                                                                1/ ANDROGEN EXCESS:

 

CAUSE: INCREASE ADRENAL PRODUCTION OF

                                                                                                 **DEHYDROEPIANDROSTERONE.

                                                                                                **ANDROSTENEDIONE

                                                                                                **TESTOSTERONE

 

+++If present during fetal developement---->AMBIGUOUS GENITALIA      [FEMALE INFANTS].

 

+++IF ANDROGEN EXCESS IS MANIFESTED IN THE POSNATAL PERIOD ---------->VIRILIZATION   [PREPUBERTAL GIRLS OR IN YOUNG WOMEN]..

 

+++In male infants ,the consequence of androgen excess during fetal developement-------->MACROGENITOSOMIA.

 

+++In the postnatal period ---------> precocious puberty.

 

#### The cortisol deficit usually does not cause major clinical manifestations because the ACTH  stimulation and adrenal hyperplasia maintain cortisol levels in the low normal range.

however (aside) the enzymes deficiency.

 

 

2/OTHERS MANIFESTATIONS

 

***21 HYDROXYLASE DEFICIENCY:

95%

-ANDROGEN EXCESS SYMPTOMS=SIMPLE VIRILIZATION =IN THE MILD

-ALDOSTERONE IMPAIRED =SALT LOSING=SEVERE FORM

                                ***MINERALOCORTICOID DEFICIENCY LEADS TO :

                                                                +++HYPONATREMIA

                                                                +++HYPOKALIEMIA

                                                                +++DEHYDRATATION

                                                                +++HYPOTENSION

 

***11 HYDROXYLASE DEFICIENCY

-DEOXYCORTICOSTERONE-MINERALOCORTICOIDS-ADRENAL ANDROGENS

                                = ARE OVERPRODUCED

-HTA

 

***17 HYDROXYLASE DEFICIENCY:

-THIS ENZYME IS NECESSARY FOR SEX STEROID.

-DEOXYCORTICOSTERONE IS OVERPRODUCED

-HTA

-ANDROGEN AND ESTROGEN DEFICIENCY

-AMBIGUS GENITALIA IN MALE INFANT

-PRIMARY AMENORRHEA IN WOMEN.

 

****DIAG

 

-BLOOD TESTOSTERONE

                ANDROSTEMEDIONE

                DEHYDROEPIANDROSTERONE

                17-HYDROXYPROGESTERONE (CORTISOL PRECURSOR)

 

 

-URINE 17 KETOSTEROIDS

                PREGNANETRIOL(METABOLITE OF 17-HYDROXYPROGESTERONE).

 

 

                                                                THERAPY

 

1/ MEDICAL :      CORTISOL ADMINISTRATION

IN THE SALT LOSING SYNDROME : MINERALOCORTICOID+FLUDROCORTISONE

 

2/SURGERY : RECONSTRUCTIVE SURGERY OF THE EXTERNAL GENITALIA IN FEMALE INFANTS IN THE FIRST FEW YEARS OF LIFE.

HYPERPLASIE CONGENITALE DES SURRENALES

 

DEFICITS:

 

                                                CHEZ LA FILLE CLASSIFICATION DE PRADER                    

 

C17-C20 DESMOLASE

17a    HYDROLASE                             } PSEUDO HERMAPHRODISM                       3bol DEHYDROGEBASE

                                                                                                                                                21 a HYDROLASE                               }SD DE VIRILISATION

                                                                                                                                                11b

 

                                                                                CHEZ LE GARCON:

 

DEFICIT 21 a HYDROXYLASE------------->Sd DE PERTE DE SEL

                                                                                INSUFFISANCE  SURRENALIENNE AIGUE

DEFICIT 11b HYDROXYLASE-------------->HTA

 

DEFICIT 17a HYDROXYLASE-------------->HTA+HYPOKALIMIA

 

                                                                POINT COMMUNS DES DEFICITS:

 

                                                                -C17-C20 DESMOLASE

                                                                -3b ol DEHYDROGENASE}--->HYPOANDROGENIE

                                                                -17-a HYDROXYLASE

 

                                =====>SUJET XY D'UN PHM:               **PHENOTYPE FEMININ

                                                                                                      **VAGIN COURT

                                                                                                       **ABSCENCE D'UTERUS

                                                                                                        **"       "      " DE TROMPE

                                                                                                        **CRYPTOCHIDIE

 

3b OL DEHYDROGENASE:                   ***INSUFFISENCE SURRENALIENNE MAJEURE [MAJOR ADRENAL INSUFFICIENCY]

                                                                   ***PERTE DE SEL [LOST SALT]

                                                                   ***INTERUPTION DE LA BIOSYNTHESE DES GLUCO MINERALOCORTICOIDES   ET ANDROGENES.

[INTERUPTION OF BIOSYNTHESIS OF THE GLUCOMINERALOCORTICOIDS AND ANDROGENS]