par Chambrier, Evelyne E.D.;Heinrichs, Claudine ;Avni, Efraim
Référence Journal of ultrasound in medicine, 21, 1, page (97-100)
Publication Publié, 2002-01
Article révisé par les pairs
Résumé : Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a deficiency of one of the enzymatic activities necessary for cortisol synthesis. More than 90% of cases of CAH are caused by 21-hydroxylase deficiency. Other enzymatic defects include 11β-hydroxylase and 3β-hydroxysteroid dehydrogenase deficiency. The clinical aspect depends on the severity of the enzymatic deficiency and its position within the chain of reactions that leads to the synthesis of the various hormones. Undiagnosed, the disease may cause life-threatening problems (electrolyte losses and dehydration) in infancy and also virilization and long-term physical and psychologic effects. Current treatment of patients with CAH includes administration of glucocorticoids to suppress excessive adrenal androgen secretion. The objective is to achieve normal growth, pubertal development, sexual function, and fertility. The aim of this report is to describe the appearance of the adrenal glands during the third trimester in a fetus with known CAH. This may render the diagnosis easier in patients without known disease and may prompt adequate treatment.