Gerster, Karine Lauber-Biason, Anna Schoenle, Eugen J. 2017-07-01 Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian function was increasingly discussed and alterations in the gene were related to primary ovarian insufficiency. We describe the follow-up of a 46, XX affected woman with a SF-1 mutation and by comparing our case with the known manifestations reported in the literature, we try to further elucidate the function of SF-1 in the ovary. During infancy, adrenal insufficiency was the only clinical sign of the loss-of-function as ovarian development and function seemed normal. To date, this young woman aged 16.5 years shows normal growth, normal BMI and psychomotor development, has a normal puberty and regular menstruation. This report shows one, to date uniquely described, phenotypic variant of SF-1 mutation in a 46, XX affected person with adrenocortical insufficiency but no ovarian dysfunction nor disturbance of pubertal development. To follow the natural history of SF-1 mutation in a 46, XX individual will further shed light on its role in the ovarian function and thus will help to counsel affected patients in future. application/pdf https://folia.unifr.ch/global/documents/305890 https://folia.unifr.ch/documents/305890/files/bia_cfu.pdf eng info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ando.2017.01.002 info:eu-repo/semantics/openAccess License undefined Annales d’Endocrinologie. - 2017, vol. 78, no. 3, p. 156–161 Steroidogenic factor 1 Adrenal insufficiency Primary ovarian insufficiency Disorder of sexual development info:eu-repo/classification/udc/616 Clinical follow-up of the first SF-1 insufficient female patient http://purl.org/coar/resource_type/c_6501