This website provides information on conditions and phenotypes associated with mutations and copy number variations in the Nuclear Receptor Subfamily 5 Group A Member 1 (NR5A1, alias: steroidogenic factor 1, SF-1) gene, including clinical data, molecular data, management and research options.

Mutations and copy number variants of the NR5A1 gene result in a plethora of phenotypes ranging from male infertility and primary ovarian insufficiency to 46,XY and 46,XX differences of sex development (DSD), reflecting its crucial role in gonadal development and gonadal hormone production. Some patients have combined gonadal and adrenal insufficiency. NR5A1 genetic variation is characterized by incomplete penetrance and inter- and intrafamilial phenotypic variability.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better care for patients with mutations in the NR5A1 gene.

Martine Cools, MD, PhD, Pediatric Endocrinology Service, Ghent University Hospital and Department of Internal Medicine and Paediatrics, Ghent University, Ghent, Belgium, martine.cools@ugent.be

Elfride De Baere, MD, PhD, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium, elfride.debaere@ugent.be

Dorien Baetens, PhD, Pediatric Endocrinology Service, Ghent University Hospital and Department of Internal Medicine and Paediatrics, Ghent University, Ghent, Belgium, dorien.baetens@ugent.be