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37 EP45 : X-linked adrenal hypoplasia congenita with a novel DAX1 missense mutation

Researchers

Presenter

  • Yu-Ting Tseng

Principal Investigators

  • Shyang-Ron Shih

  • Pei-Lung Chen

Medical Centers

  • Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan

  • Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan

Locations

  • Taiwan

Companies

  • N/A

Study Components

Therapeutic Area

  • Genetic Disorder

Disease

  • Adrenal hypoplasia, congenital

  • 46,XY sex reversal 2

  • Hypogonadotropic hypogonadism

  • Addison's disease

Biomarkers

  • Adrenocorticotropic hormone

  • Cortisol

  • Follicle-stimulating hormone

  • Hemoglobin A1c

Drug/Treatment

  • clomiphene

  • LHRH

Outcome

  • Unknown

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Final

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