Adrenal hypoplasia congenita and hypogonadotropic hypogonadism due to a novel NR0B1 (DAX1) gene mutation associated with common variable immunodeficiency and Hashimoto's thyroiditis

Endokrynol Pol. 2024;75(5):560-561. doi: 10.5603/ep.99536. Epub 2024 Oct 8.

Abstract

Not required for Clinical Vignette.

Keywords: Hashimoto’s thyroiditis; NR0B1; adrenal hypoplasia congenita; common variable immunodeficiency; hypogonadotropic hypogonadism.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Common Variable Immunodeficiency* / complications
  • Common Variable Immunodeficiency* / genetics
  • DAX-1 Orphan Nuclear Receptor* / genetics
  • Female
  • Hashimoto Disease* / genetics
  • Humans
  • Hypogonadism* / genetics
  • Male
  • Mutation*

Substances

  • DAX-1 Orphan Nuclear Receptor
  • NR0B1 protein, human