Le déficit en aldostérone-synthase est l’une des causes rares des syndromes néonatals de perte de sel après avoir éliminé la classique hyperplasie congénitale des surrénales par déficit en 21-hydroxylase. Nous rapportons 2 observations de cette maladie pour rappeler les signes cliniques et les grands principes d’une prise en charge adaptée précoce, et le devenir de 2 autres patients jumeaux parvenus à l’âge adulte. La physiopathologie de cette enzymopathie sera abordée brièvement à la lumière de la littérature.

Neonatal salt-wasting syndromes are rare but potentially serious conditions. Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types I and II. In type I, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type II, a residual activity of aldosterone synthase persists and 18 OHB is overproduced. We report on four patients with isolated hypoaldosteronism. In 2 of them, who were recently diagnosed with aldosterone synthase deficit, we discuss the symptoms and treatment. The 2 other patients are now adults. We discuss the long-term outcome, the quality of adult life, aldosterone synthase deficits, as well as the pathophysiology and molecular analysis.