hrp0095p1-9 | Adrenals and HPA Axis | ESPE2022

Identification of a novel CYP11B2 variant in a family with varying degrees of aldosterone synthase deficiency

Garrelfs Mark , Rinne Tuula , Hillebrand Jacquelien , Lauffer Peter , Bijlsma Merijn , Claahsen-van der Grinten Hedi , de Leeuw Nicole , Finken Martijn , Rotteveel Joost , Zwaveling-Soonawala Nitash , Nieuwdorp Max , van Trotsenburg Paul , Mooij Christiaan

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...