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Journal article

Clinical follow-up of the first SF-1 insufficient female patient

  • Gerster, Karine Department of Endocrinology and Diabetology University Children's Hospital, Zurich, Switzerland
  • Lauber-Biason, Anna Department of Endocrinology and Diabetology University Children's Hospital, Zurich, Switzerland - Department of Medicine, University of Fribourg, Switzerland
  • Schoenle, Eugen J. Department of Endocrinology and Diabetology University Children's Hospital, Zurich, Switzerland
    01.07.2017
Published in:
  • Annales d’Endocrinologie. - 2017, vol. 78, no. 3, p. 156–161
Steroidogenic factor 1
Adrenal insufficiency
Primary ovarian insufficiency
Disorder of sexual development
English 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.
Faculty
Faculté des sciences et de médecine
Department
Médecine 3ème année
Language
  • English
Classification
Pathology, clinical medicine
License
License undefined
Identifiers
Persistent URL
https://folia.unifr.ch/unifr/documents/305890
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