hrp0089p2-p339 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Results of Exome Sequencing in Disorders of Sex Development

Kempers Marlies , Claahsen Hedi , Alfen Janielle van , Velden van der , Rinne Tuula

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...

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...